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Jan1516

From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

Here in Wisconsin we just finished with a cold snap and warmed up to 35 degrees today.  However another cold snap is just around the corner.  One of my favorite photographers took the picture of the ice caves near Apostle Islands National Lakeshore.  Thought you might like to see some of the beauty of Wisconsin winters.

Island
© Copyright 2015, Life in the Northwoods

My "Family Support Services" update this week highlights:

  • 24th Annual NNPDF Family Support and Medical Conference
  • Now I Lay Me Down To Sleep
  • Infinity Coaches’ Charity Challenge to raise money for NPC research
  • CTD Press Release

Please feel free to contact me at: nnpdf@nnpdf.org or give me a call at: 1-877-287-3672 if you have any questions pertaining to the work and “Family Support Services” afforded to the members of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Have a great weekend!

Click here to view the full post

Chris Klauer
NNPDF Family Support and Marketing Coordinator

[Jan 15th, 2016 ~ blg]

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Fin

Dear NNPDF Families and Friends,

As we wrap-up year-end 2015 and embark on all that 2016 has in store for the NNPDF, the Board of Directors wanted to provide you with a Finance Committee update.  The Finance Committee is responsible for continually reviewing the financial affairs of the NNPDF during the year, preparing the budget, reviewing any anticipated expenses, and communicating the financial condition of the NNPDF to the Executive Committee and NNPDF Board of Directors. 

Please find a year-end 2015 update from the NNPDF Finance Committee Chair, Jill Flinton, of Charlton, New York.  Jill serves on the foundation board in a volunteer capacity and in memory of her son, Daniel (NPC) who passed away from on November 11, 2011 at the tender age of four years.

To access the NNPDF Foundation Financials and Forms web page directly ~ simply go to the NNPDF Web Site Home Page at www.nnpdf.org, choose About Us, follow the link to the NNPDF Financial Files and Form to see most recent update post to the NNPDF membership; dated: Jan 12th, 2016 or follow this direct link: http://nnpdf.org/aboutus_02.html#FinCommittee2

Please find “quick links” to all of these previous posts below.  

If you should have any questions related to this information and/or update ~ please feel free to contact the foundation for assistance.

[01/12/2016 ~ blg]

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Save the Date

The NNPDF is excited to announce that the 24th Annual Family Support & Medical Conference will be held in Boston, Massachusetts on August 11-14, 2016.

Specific details associated with this summer 2016 event are being finalized and will be posted as soon as they become available!

For now, please pencil in these dates on your summer calendar ~ and ~ we hope to see you all there!

[01/11/2016 ~ blg]

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$100,000 for NPC Research Infiniti Coaches Charity Challenge ~ 2016
January 4th ~ March 29th, 2016

Dear NNPDF Families and Friends,

The entire Niemann-Pick Disease type C  community has been offered an unparalleled opportunity to raise $100,000 towards NPC research, but it will only happen if YOU take action and encourage others to do the same. It's easy! Vote once a day online between now and March 29th to push the Trent and Julie Smith Family Foundation "BReaK Thru Fund" for NPC research to the finish line and the top prize of $100,000! (Three of the Smith family children have been diagnosed with Niemann-Pick Disease type C ~ Braden, Riley and Keaton ~ thus BReaK-Thru Fund.)

Painter

Click Here to Vote for Matt Painter!

The first round of voting opened on January 4th, 2016 and continues through January 29th, 2016 when 24 Coaches out of the initial 48 will advance to round two of four total.  Vote daily for Matt Painter to ensure he makes it to the final round!

Share this with your families, share this with your friends and encourage them to do the same.
Alone we are rare, but together we are strong!  


www.votemattpainter.com

[01/11/2016 ~ blg]

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From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

My update this week highlights:

    • Family Voices
    • Understanding Breakthrough Therapy Designations
    • NPD “In the news!”

Please feel free to contact me at: nnpdf@nnpdf.org or give me a call at: 1-877-287-3672 if you have any questions pertaining to the work of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Click here to view the full post: http://www.nnpdf.org/FamilyServiceSupport.html#Jan082016

Have a great weekend!
Chris Klauer
NNPDF Family Support and Marketing Coordinator

[Jan 8th, 2016 ~ blg]

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We Will Persevere!

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As 2015 draws to a close, families and friends will gather to celebrate all of the milestones afforded them throughout 2015.  As we all take the time to reflect and close the last chapter of 2015, we all look ahead to the new chapters which await us in 2016 ~ there are new advances and milestones awaiting our patients and families! 

Often, for our NPD families, the future is guided by the fear and trepidation of what awaits as the progression of Niemann-Pick Disease inevitably begins to take its toll on their loved ones.  BUT ~ as we look ahead towards 2016 ~ it is with a glimmer of hope that the ongoing and upcoming clinical trials for a number of therapies into NPD will be successful in slowing the disease progression.

We ask that the members of the foundation draw strength from the prose of Helen Keller, Your success and happiness lies in you. Resolve to keep happy, and your joy and you shall form an invincible host against difficulties.

To cap off 2015, we have created a “Year-end” e-Newsletter to share with the NNPDF community. 

 It includes:

  • Thanks for your ongoing financial support in 2015 ~ “Year-end” donation reminders!
  • In Memoriam ~ Remembering Those We Lost in 2015
  • Coping with Loss During the Holidays
  • 2015 E-Newsletters Recap
  • 2016 Annual NNPDF Board Meeting

Click here to view the 2015 End of Year e-Newsletter!

As the New Year approaches with hopes anew, the NNPDF wishes to extend to you and your family a wonderful year ahead.  Happy New Year!

[Dec 31st, 2015 ~ blg]

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Giving the Gift of Hope in 2016!

During these tight fiscal times, we understand that there are many worthy causes vying for your donation dollars.  You can be assured that your gift to the NNPDF will be greatly appreciated and faithfully stewarded to bring the greatest benefit to families dealing with Niemann-Pick Disease in 2016 and beyond!

https://scontent-ord1-1.xx.fbcdn.net/hphotos-xpa1/t31.0-8/10380462_1496564243982447_6080523289224197937_o.jpg
Johnathan Spencer, age 9 ~ NPC ~
National Institutes of Health Phase 1 Clinical Trial Participant

Thank you in advance for your help towards our Quest for a Cure and supporting the National Niemann-Pick Disease Foundation (NNPDF) so that we can provide the gift of hope for our NPD patients and their families.

To donate now, simply follow the link below:

Donate Now button


There is, like never before, hope for the future ~ a future where Niemann-Pick Disease is no longer a threat to a full and productive life for patients and their families.

The NNPDF’s accomplishments of the past 23 years are due to the efforts of parents and families desperate to save their children from the devastating that is Niemann-Pick.


Giving the Gift of Hope ~ Legacy of Hope & Donations

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With the end of the year right around the corner, it reminds us of how far we've come in 2015 thanks to the ongoing work and research generously funded by our Niemann-Pick Friends and Families.

There are currently several promising NPD clinical trials in progress, which could lead to live-saving therapies. The NNPDF continues to fund promising research laboratories and we continue to raise awareness into NPD across the country. All of these efforts combined help us to continue moving towards that"Legacy of Hope" for a brighter future and eventually, a cure for all.

Here is how you can help give the gift of Hope for 2016!

Every little bit helps, even if you can only volunteer your time.  We understand not everyone can give money, which is why your support in any capacity is every bit as important.

Your contributions will not only assist us as we work to provide support to our families, but also enable us to offer the gift of hope through research!

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Don't forget to make your tax deductible donation
before December 31st, 2015!

All donations postmarked by December 31st, 2015 will receive a tax deductible receipt for 2015!

Donate Now!

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Thanks for your continued financial support in the fight against Niemann-Pick Disease!
Please contact us if you have any questions or need further information.

The NNPDF is a non-profit 501( c) (3) foundation and your gift is fully tax-deductible to the limit of IRS rules and regulations.
Tax ID #35-1844264 // www.nnpdf.org

[Dec 30th, 2015 ~ blg]

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The National Niemann-Pick Disease Foundation would like to wish you all season's greetings! 

Whatever is beautiful, Whatever is meaningful, Whatever brings you happiness...May it be yours this Holiday Season.

Best wishes to all of our Niemann-Pick Disease Foundation members and their supporters. 

May the warmth of hearth and home fill your hearts with joy this holiday season! 

~ The NNPDF Office Staff and Members of the Board of Directors

[Dec 22nd, 2015 ~ blg]

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NPC Vtesse Clinical Trial & Central Office Updates

Dateline: Dec 21st, 2015

 

Dear NNPDF Family & Friends,

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to be able to share with our NPD community families updates associated with the following:

  • Vtesse VTS-270 NPD Type C Clinical Trial UPDATES
  • NNPDF Equipment Exchange Program and NEW posted items

 

Click here to view the NNPDF e-Blast

[Dec 21st, 2015 ~ blg]

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From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

Dear NNPDF Families and Friends,

The Holidays are coming!  The Holidays are coming!  No don’t run for the hills!  Instead check out the Holiday Survival Guide that I found!

My update this week highlights:

  • Holiday Survival Guide
  • NNPDF & CCNNPDF Membership Update

Please feel free to contact me at: nnpdf@nnpdf.org or give me a call at: 1-877-287-3672 if you have any questions pertaining to the work of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Have a great weekend!

Click here to view this week's Family Services Update post

Chris Klauer
NNPDF Family Support and Marketing Coordinator

[Dec 18th, 2015 ~ blg]

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Ghazi Tamim (NPA)
10/21/2013 - 12/07/2015

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Dear NNPDF Families and Friends,

The NNPDF Central Office today received notice of the passing of Ghazi Taimur (10/21/2013 – 12/7/2015 ~ NPA). 

Ghazi’s father Taimur writes:  “We are saddened to inform all that our beloved son Ghazi, after 2 ½ years of fighting NPA died on 7th of December 2015.  Please remember him in your prayers.

To Ghazi’s loving parents, Taimur and Fatima please know that your NNPDF family is here for you and to let us know if you need anything in the coming days, weeks and months ahead. We are holding you all in our hearts and thoughts.

[Dec 16th, 2015 ~ blg]

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Year-end Shopping for the Gift of Hope!

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Dear NNPDF Families and Friends,

As year-end approaches and shopping for loved ones begins to hit “fever-pitch” level….more and more of us are turning to on-line shopping services for assistance in finalizing our Santa wish list!  If you have found yourself letting your “fingers do the shopping on-line” ~ we have an easy way in which your shopping efforts can benefit the NNPDF and our programs at the same time.

The NNPDF has taken steps this holiday season and throughout the entire year, to provide the opportunity for our supporters who enjoy on-lining shopping the ability to “Gift of Hope for a Brighter Future” for all those diagnosed with Niemann-Pick Disease (NPD). 

Click here to view the NNPDF e-Newsletter highlighting ways you can shop to support the Foundation

[Dec 15th, 2015 ~ blg]

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December 2015 e-Newsletter ~ Year-End Giving

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Dear NNPDF Families and Friends,

The NNPDF December 2015 e-Newsletter is available! Highlights include the following ways you can shop before the holidays online that will benefit the NNPDF:

  • iGive.com
  • Goodshop & Goodsearch
  • Amazon Smile
  • Bravelets & Persevere Beads
  • Persevere Wristbands
  • PersevereWEAR
  • Recipe for Success ~ Charity Giving

Click here to view the NNPDF December 2015 e-Newsletter!

[Dec 15th, 2015 ~ blg]

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Cassandra Samborski (NPB)
01/07/1994 ~ 12/9/2015

Cassie

Dear NNPDF Families and Friends,

It is with a heavy heart that we notify our NPD family membership of the passing of Cassandra “Cassie” Samborski (January 7, 1994 – December 9, 2015 ~ NPB), who courageously fought the NPB battle for 21 years. Cassie loved traveling and spending time with her family.  She enjoyed making others happy and especially enjoyed connecting with other NPB patients and their families.  Cassie always had a bright smile and loving welcoming embrace to family and friends alike.

Cassie’s Dad, Wayne Samborski, shared the following update to the NPD community; “For those of you that did not know Cassie, she was a pioneer of Niemann-Pick type B. Her disease back when first diagnosed was moving very fast and doctors gave her maybe a few years to live. At that time, she was the first person in the USA to undergo a Bone Marrow Transplant for Niemann-Pick type B. After two tries it finally worked. After a test showed she had the missing enzyme and was cured from Niemann-Pick type B. Her heart, liver, lungs and kidney paid a price and did get damaged but she made it 21 years instead of 5 years.”

To Cassie’s loving parents, Wayne and Candy, and beloved older sisters, Nicole & Jessica, please know that your NNPDF family is here for you and to let us know if you need anything in the coming days, weeks and months ahead. We are holding you all in our hearts and thoughts.

A link to Cassie’s obituary and details for the visitation and funeral are located at: Here

[Dec 11th, 2015 ~ blg]

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Dear NNPDF Families and Friends,

New for 2015, the NNPDF Board of Directors rolled out a new communication strategy which we hope will assist you in feeling more connected with the work of the foundation and your Board Representatives. This new communication strategy offers the foundation a unique opportunity to share on-going efforts, as well as new and existing programs, projects and activities being addressed on your behalf, our family membership and NNPDF key stakeholder’s.  Crucial to the role of the foundation is that of “communication liaison” between pharmaceutical and research agencies working to bring innovative therapies to our NPD patient community via clinical trials.
 
Today, we wish to share with you an update from the 2015 Research Committee Chair, Elissa Miller-Visoky, of Marlboro, New Jersey.  Elissa serves on the foundation board in a volunteer capacity and in honor of her son, Jack Visoky (NPB).

To access the NEW web page titled:  “Message from the NNPDF Board” ~ simply go to the NNPDF Web Site Home Page at www.nnpdf.org for the most recent update to the NNPDF membership; dated: Dec 4th, 2015 and or follow this direct link: http://www.nnpdf.org/aboutus_02.html#ResComm

2015 NNPDF Board Communication Recaps:

  • The NNPDF Board of Directors (BoD’s) wrapped up our annual board meeting in early March 2015 in Chicago, Illinois. 
  • On Tuesday, March 24th , 2015, the first update was penned by the sitting 2015 NNPDF Board Chair, Leslie Hughes, which was followed by the Nominations Board Chair, Lisa Chavez's post on March 31st, 2015. 
  • On April 16th, 2015 the foundation Finance Chair, Jill Flinton, shared her background and updates on the financial condition and efforts of the NNPDF, while the Development Committee Chair, Becky McGuire, told of all the exciting fundraising and development plans for 2015. 

Please find “quick links” to all of these previous posts below.

If you should have any questions related to this information and/or update ~ please feel free to contact the foundation for assistance.

[Dec 4th, 2015 ~ blg]

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NPD Type B ~ Clinical Trial Updates

genzyme

Dear Niemann-Pick Disease Type B Families ~

One of the key services of the National Niemann-Pick Disease Foundation (NNPDF) is to ensure that our patient community is provided with all of the available critical information needed to make fully informed decisions about moving ahead with medical treatment and/or participation in a clinical trial. 

Currently, there are two clinical trials being supported by Genzyme, a Sanofi Company, for our NPD Type B (ASMD) patient community.  Listed below are links to the available informational and resources web pages detailing specifics associated with the pediatric and adult clinical trials for NPB patients.  At this time, Genzyme is interested in receiving feedback from the patient community about the clinical trial.  If, after reviewing the information provided below, you should have a specific question about either clinical trial ~ please feel free to post them below in the comment section. 

The NNPDF Central Office will gather these, provide the list to Genzyme and then develop a “Q & A” web page to address all of your inquiries.  In the interim, should you need or require any additional assistance and or support, please feel free to contact me at:  nnpdf@nnpdf.org

Genzyme, A Sanofi Company, currently has a Phase 1/2 pediatric trial in process.  In addition, the current timeline indicates that the Phase 2/3 adult clinical trial began earlier this year will continue to enroll adult patients throughout 2016.

You can find more information regarding each trial below on the clinicaltrial.gov website:

Phase 1/2 pediatric trial

Phase 2/3 adult clinical trial

Genzyme has a brochure regarding the Acid Sphingomyelinase Deficiency (ASMD) Clinical Program that you can download at:

ASMD Clinical Program

The NNPDF also has a web page with an historical timeline of information associated with each trial here:  http://nnpdf.ca/npresearch_11.html

Chris Klauer
NNPDF Family Services and Marketing Coordinator
nnpdf@nnpdf.org

[Dec 3rd, 2015 ~ blg]

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It’s HERE ~ #GivingHOPETuesday ~ December 1st, 2015!  Today is the day that you can make a big impact on behalf of the National Niemann-Pick Disease Foundation, our Niemann-Pick Disease patients and the families we serve!  With your help, we’ll raise funds to assist with our NPD family services and research programs.

If you make a gift online TODAY, the foundation will earn matching funds from our partner, Network for Good—making your support go even further.

It’s easy to take part!


Donate Now button

Today’s the day, and we need your help to grow our impact for all NPD children and young adults living with Niemann-Pick Disease!

Heartfelt thanks!

NNPDF

[Dec 1st, 2015 ~ blg]

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Today is Cyber Monday when many will be shopping on-line for all the great holiday deals!  Before your friends and family get wrapped up in the online mania, please take a moment to remind them about the role that the NNPDF plays in your lives and how their donations to the foundation will be matched on Tuesday, December 1st, 2015!   

We've put together an e-News blast for you to share with friends and family showing some special opportunities available to you for #GivingHopeTuesday, which includes ways you can shop for the holidays and donate at the same time!

  • Matching funds from Network for Good for every donation made on December 1st at www.nnpdf.org
  • Bravelets donating double ($20 instead of $10) for all jewelry purchased on December 1st.
  • Holiday shopping options that donate back to the NNPDF a percentage of your purchase.

Click here to view the e-Blast: http://www.graphicmail.com/new/viewnewsletter2.aspx?SiteID=4117&SID=0&NewsletterID=1343158

[Nov 30th, 2015 ~ blg]

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Getting involved and promoting #GivingHOPETuesday is easy!  Here are a few simple ideas:

  • Consider making a gift on #GivingHOPETuesday at: https://donatenow.networkforgood.org/nnpdf?code=Homepage
  • Help us get the word out on social media, using @nnpdf and the hashtag #GivingHOPETuesday.
  • Take photos to post on Facebook, Twitter, or Instagram to show your support for of the National Niemann-Pick Disease Foundation.

With your help we can raise NPD Awareness and much needed research funds!

Donations made on Tuesday, December 1st through  #GivingHOPE Tuesday will help sponsor research and provide family support to the many NPD families that are members of the NNPDF.   By sharing this post you can help provide HOPE to so many in the NPD Community.  Go to www.nnpdf.org and click on the “Donate Now” button.

Persist. Quest. Cure.

[Nov 29th, 2015 ~ blg]

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We’re raising funds on #GivingHOPETuesday to help kick-start our 2015 giving season in support of the critical programs, services and research offered to our NPD patients and their families through the work of the NNPDF.

Not only will the foundation benefit from the funds raised on #GivingHOPETuesday, but we will also earn matching funds from our partner, Network for Good, for gifts given online—Tuesday, December 1st, 2015 ~ making your support go even further.

We need your help, and it’s easy.

  • Please consider making your year-end gift on December 1. If you wish to make your gift go further with matching funds, give online at https://donatenow.networkforgood.org/nnpdf?code=Homepage.
  • Help us get as many people involved as possible by spreading the word.
  • Send an email to your friends, colleagues, and family members sharing your enthusiasm for the NNPDF and our program services. We’d love them to support the foundation on #GivingHOPETuesday, but we also want everyone to support whatever inspires them.

• Help us get the word out about the NNPDF on Facebook and Twitter.

Connect with us at https://twitter.com/nnpdf and use the hashtag: #GivingHOPETuesday

Please do what you can for the families of the NNPDF on this big day. Your generosity WILL have an even stronger impact with the power of #GivingHOPETuesday and with our access to matching funds. Heartfelt thanks for your consideration and generosity.  We WILL Perservere in our QUEST for a CURE!

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[Nov 28th, 2015 ~ blg]

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Your passion to support and impact the lives of our patients and family membership affected by Niemann-Pick Disease can go even further on #GivingHOPETuesday .

On December 1, the NNPDF will be joining a national day of generosity, #GivingHOPETuesday. It’s a day when you can make a big impact on the National Niemann-Pick Disease Foundation, our NPD patients and their families.

With your help, we’ll raise funds to continue on with NPD family services programs, support, and referrals, as well as, funding for research into Niemann-Pick Disease.

If you make a gift online this Tuesday, December 1st, the NNPDF will earn matching funds from our partner, Network for Good—making your support go even further.

Check in tomorrow to see how easy it is for you to take part!  In the interim, share this post and link with all of your family and friends on Social Media! 

https://donatenow.networkforgood.org/nnpdf?code=Homepage

Corbitt

[Nov 27th, 2015 ~ blg]

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2015 Season of Giving and Thanks!

HT

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation would like to send everyone wishes for a safe and happy Thanksgiving.

Time and again, our NPD families have shown that, despite the challenges faced, they give thanks for all the opportunities which arise from those struggles through Perseverance, as only NPD families can.

We are very thankful for your continued support and that you allow us into your lives, where we hold you close in our thoughts and our hearts year round.

Best wishes to all for a warm and love-filled Thanksgiving holiday,

~ The Board Members and Staff of the NNPDF

[Nov 26th, 2015 ~ blg]

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DOUBLE DONATION DAY!  Start your holiday shopping early!!  In honor of #GivingHOPETuesday, December 1st, 2015 ~ Bravelets is donating $20 (instead of $10) out of every purchase of all BRAVELETs made on Tuesday, December 1st, 2015!

To help support the programs of the NNPDF and check off items for your holiday gift list, simply visit the Brave Page of the NNPDF and choose a Bravelet design that best fits your style. Won’t you consider joining along with the NNPDF in helping us to give back to our NPD patient community?

Click the link below on 12/1/15 to start shopping and send DOUBLE DONATIONS to the NNPDF so that you too can give the gift of HOPE to our NPD patients and their families.

 

Bravelets Gift of Hope

3brave

      Still need to obtain your personalized FaceBook icon and cover page ~ ....E-mail Beth at:  bgreen@nnpdf.org

[Nov 25th, 2015 ~ blg]

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Have you shared your #GivingHOPETuesday FaceBook icon and banner highlighting your NPD loved ones photo with all of  your family and friends on FB?  We are encouraging each family of the NPD foundation to enlist the support of FIVE (5) of your nearest and  dearest to update their FB icons and banners with your child’s personalized #GivingHOPETuesday FB icons!  It’s not too late to get your FB banner to use in the days ahead as we count down to December 1st, 2015 as #GivingHOPETuesday! 

Please remind your supporters that they can offer the gift of HOPE by going to www.nnpdf.org and clicking on the “Donate Now” button!  To further highlight their support of your family and the NNPDF, they will receive an “I donated to the NNPDF” FB icon button to point out heartfelt efforts in giving HOPE to all NPD families.

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E-mail Beth at:  bgreen@nnpdf.org

[Nov 24th, 2015 ~ blg]

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November/December 2015 CCNNPDF e-Newsletter ~ Now Online

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Dear Niemann-Pick Disease Families and Friends,

The CCNNPDF November/December 2015 e-Newsletter is available ~ Highlights include:

  • Meeting of the International Niemann-Pick Disease Alliance
  • "Think Again. Think NPC"
  • October 2015 GLOBAL Niemann-Pick Disease Awareness Month
  • November is National Family Caregivers Month
  • Giving Tuesday ~ December 1st, 2015
  • PersevereWear ~ Getting Ready for the Holidays!
  • Clinical Trials: Updates & Recruitment
  • Reminder from Chris Klauer

Click here to view the CCNNPDF November/December 2015 e-Newsletter!

[Nov 24th, 2015 ~ blg]

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#GivingHOPETuesday is December 1st, 2015.  #GivingTuesday was developed by the philanthropic community to ensure that on the heels of Black Friday, Small Business Saturday and Cyber Monday those who wish to begin the Holiday Season in the “Spirit of Giving” have the opportunity to give the gift of HOPE to the charity of their choice!!  Your directed donations to the NNPDF have a direct impact on those diagnosed with and living courageously with NPD every day!  The NNPDF has adopted: #GivingHOPETuesday to remind everyone that their donations will provide the Gift of HOPE to our NPD patients, their families and loved ones this holiday season.

How can you help???  We have laid this out for you in THREE easy steps!

1. Contact Beth at:  bgreen@nnpdf.org with a photo of your NPD family member so that she can create your personalized #GivingHOPETuesday ~ Facebook icon and banner as shown below:

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Hope

2. Upload the personalized #GivingHOPETuesday FaceBook (FB) icons and banners to your personal FB pages and encourage your family and friends to do the same! 

SPECIAL CHALLENGE:

We would like to CHALLENGE each NPD family in our Niemann-Pick Disease Foundation membership to recruit FIVE (5) friends & family members to update their FB icons and cover pages with your special #GivingHOPETuesday graphics! Likewise, encourage them to contact their FB friends and assist with this effort.  Let’s all work together to blanket Social Media with the beautiful faces, smiles and spirit of all our precious loved ones fighting Niemann-Pick Disease! 

3. Watch for daily posts from the foundation during this special week of “Thanks and Giving” which will all lead up to #GivingHOPETuesday, on December 1st, 2015!  The more we all promote and share these updates with your supporters the better able we will be to raise awareness and funds in support of the NNPDF and our programs.

You can learn more about the origins of #GivingTuesday at:http://www.givingtuesday.org/about/  

Any questions ~ or ~ need some guidance….please feel free to contact Chris Klauer, NNPDF Family Services and Marketing Coordinator at:  cklauer@nnpdf.org or call:  1-877-287-3672.  

I am here to help!

Chris

[Nov 23rd, 2015 ~ blg]

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From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

The end of the year is coming up fast!  I know your families will be busy with holiday season activities and family gatherings but please remember to take some time for yourself ~ especially as November is National Caregivers Month!

My update this week highlights:

~ #GivingHOPETuesday!
~12 Days, 12 Ways; Caring for the Caregiver
~ 51 & Done!

Visit the Family Services web page on the NNPDF website to view the update: http://www.nnpdf.org/FamilyServiceSupport.html#Nov2015

Please feel free to contact me at: nnpdf@nnpdf.org or give me a call at: 1-877-287-3672 if you have any questions pertaining to the work of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Have a great weekend!

Chris Klauer

NNPDF Family Support and Marketing Coordinator

[November 20th, 2015 ~ blg]

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November 2015 e-Newsletter ~ Now Online

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Dear NNPDF Families and Friends,

The NNPDF November 2015 e-Newsletter is available! Highlights include:

  • Meeting of the International Niemann-Pick Disease Alliance
  • October 2015 GLOBAL Niemann-Pick Disease Awareness Month
  • November is National Family Caregivers Month
  • Giving Tuesday ~ December 1st, 2015
  • PersevereWear ~ Getting Ready for the Holidays!
  • Clinical Trials: Updates & Recruitment
  • Reminder from Chris Klauer

Click here to view the NNPDF November 2015 e-Newsletter!

[Nov 17th, 2015 ~ blg]

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From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

October NPD Awareness Month was a great success!  Everyone did their part in raising awareness for Niemann-Pick Disease!

My update this week highlights:

  • ~October Awareness ~ Review
  • ~National Family Caregivers Month
  • ~ Giving Tuesday

Visit the Family Services web page on the NNPDF website to view the update: http://www.nnpdf.org/FamilyServiceSupport.html#Nov1315

Please feel free to contact me at: nnpdf@nnpdf.org or give me a call at: 1-877-287-3672 if you have any questions pertaining to the work of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Have a great weekend!

Chris Klauer
NNPDF Family Support and Marketing Coordinator

[November 13th, 2015 ~ blg]

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NPD Current Clinical Trial Recruiting Update ~ e-Blast

blast

Dear National Niemann-Pick Disease Foundation (NNPDF) Family Membership,

The NNPDF Central Office is working diligently to ensure that our entire NPD membership community is aware of the various clinical trial opportunities available for those seeking innovative therapeutic options for Niemann-Pick Disease. With this in mind, the foundation is providing an update and links to updates which we have received from the three pharmaceutical companies currently moving forward with clinical trial opportunities for NPD patients.

To view the e-news Blast with the updated information dated November 11th, 2015, click here

[Nov 11th, 2015 ~ blg]

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Banner

Just a reminder that the following NNPDF Fundraising and NPD Awareness Events are happening:

Tonight, Monday, November 9th in Latham, New York is The Wide World of Sports III ~ In Honor of JP Honsinger.

If you can support them it would be greatly appreciated!

KUDOS to Anne O’Connor Smith for participating in her 1st Ironman Triathlon in Florida this weekend!  She had to run, swim and bike to reach the finish line!  WAY TO GO ANNE!!!

If you would like to add your event to the NNPDF Events Page please contact Chris Klauer, Family Services & Marketing Coordinator at nnpdf@nnpdf.org!

During October Awareness Month the NNPDF Central Office received notification of events happening in various states!  If you raised awareness in your state during October please let us know!  We will add you to the map!

October Awareness Map

Please remember that if you are holding an event and need assistance we can help you with so many of the details.       

  • On-line event registration page
  • NNPDF Liability Insurance Coverage Certificate

There are certain restrictions so please check with the NNPDF Central Office as to how we can assist!

NNPDF Fundraising Services Plan

As always you can find all of the NNPDF Current Fundraising and NPD Awareness Events at http://www.nnpdf.ca/donorinfo_13.html#Current.

[Nov 9th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 31 ~ Fast Facts

To learn more about what a NPD patient and their families face when a loved one is diagnosed with NPD ~ please refer to: http://www.nnpdf.org/npdisease_19.html & http://npatimeline.blogspot.com/

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 31st, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 30 ~ Fast Facts

30

You can see more information about last year's conference at: http://www.nnpdf.org/FCRecaps.html.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 30th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 29 ~ Fast Facts

29

Go to: http://www.nnpdf.ca/Newsline2015.html and http://www.nnpdf.ca/ASMDNewsline2015.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 29th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 28 ~ Fast Facts

28

You can visit the two Facebook group pages here:

https://www.facebook.com/nnpdf.staff

https://www.facebook.com/groups/nnpdf/

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 28th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 27 ~ Fast Facts

To learn more about the NNPDF Equipment Exchange Program go to: http://www.nnpdf.ca/familyservices_09.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 27th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 26 ~ Fast Facts

To learn more about the Diagnosis of NPD go to: http://www.nnpdf.org/npdisease_02.html.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 26th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 25 ~ Fast Facts

All the fundraisers and awareness events are posted at http://www.nnpdf.ca/donorinfo_13.html.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 25th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 23 ~ Fast Facts

23

To see our colored in map go to: http://www.nnpdf.org/GlobalOctoberNiemann-PickDiseaseAwarenessMonth2015.htm. Next year can you help fill it even more?

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 23rd, 2015 ~ blg]

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Genzyme

Dear NPB Families,

At the 23rd Annual NNPDF Family Support and Medical Conference held in Chicago, Illinois, some individuals of the NPB community were able to take part in the Patient Reported Outcome.  Please follow the link below to read what participants in this Patient Reported Outcome had to say.  They are currently looking for caregivers of our pediatric NPB community to take part in this interview.  

Click here to view the full post: http://www.nnpdf.ca/npresearch_11.html#Genzyme10222015

Thank you for your help!

[Oct 22nd, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 22 ~ Fast Facts

22

To see some great ideas to go: http://www.graphicmail.com/new/viewnewsletter2.aspx?SiteID=4117&SID=0&NewsletterID=1332807

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 22nd, 2015 ~ blg]

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October 2015 e-Newsletter ~ Now Online

Banner

Dear NNPDF Families and Friends,

The NNPDF October 2015 e-Newsletter is available! Highlights include:

  • Global October Awareness Month
  • NNPDF 2015 Family Conference ~ Update
  • Clinical Trials: Updates & Recruitment
  • NNPDF Fellowship Progress Reports

Click here to view the NNPDF October 2015 e-Newsletter!

[Oct 21st, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 21 ~ Fast Facts

21

To learn more about the members of the INPDA go to: http://inpda.org/about-us/#content-area-2

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 21st, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 20 ~ Fast Facts

20

To learn more about the INPDA please go to: http://inpda.org/about-us.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 20th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 19 ~ Fast Facts

Day19

To learn more about the SAB Members please go to: http://www.nnpdf.org/aboutus_05.html.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 19th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 18 ~ Fast Facts

Day18

To see the current and all past E-newsletters please go to http://www.nnpdf.ca/familyservices_04.html.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 18th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 17 ~ Fast Facts

To become a member please go to: https://nnpdf.givezooks.com/events/national-niemann-pick-disease-foundation-membership-for

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 17th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 16 ~ Fast Facts

Fact16

To learn more about the research that is funded by the NNPDF and its supporters go to http://www.nnpdf.org/npresearch_04.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 16th, 2015 ~ blg]

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2015 GLOBAL Niemann-Pick Disease Awareness Month ~ Awareness e-Blast
Dateline: 10/16/2015

Global Niemann-Pick Disease Awareness Month has started and you are all doing a great job of raising awareness.  The NNPDF Central Office wanted to be sure that there are ways for everyone to take part in this event, so we put together an e-Blast full of fun and easy ideas.

For more information on things you can do to help raise awareness this October, click here.

[Oct 16th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 15 ~ Fast Facts

CAN

To learn more about The Canadian Chapter of the National Niemann-Pick Disease Foundation please go to http://nnpdf.ca/aboutus_03.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 15th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 14 ~ Fast Facts

Spencer

We have gathered information highlighting what participating in a clinical trial can mean for your NPD family member,as well as resources to support your family in making the decision that is right for all involved, please go to http://www.nnpdf.org/ClinicalTrialFAQ.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 14th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 13 ~ Fast Facts

13

To watch this short film which was funded and supported by Hope for Hollie Foundation, Niemann-Pick UK and the International Niemann-Pick Disease Alliance go to https://www.youtube.com/watch?t=60&v=4gVcI_0T5l4

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 13th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 12 ~ Fast Facts

To learn more about the latest news and updates pertaining to Clinical Trials please go to: http://www.nnpdf.org/#ClinicalTrials

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 12th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 11 ~ Fast Facts

To learn more about how the NNPDF serves our foundation family membership, please follow this link with highlights from the NNPDF Family Services and Marketing Coordinator, Chris Klauer:http://www.nnpdf.org/FamilyServiceSupport.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 11th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 10 ~ Fast Facts

10

To learn more about PersevereWear and other NPD Promotional Products, please follow this link:http://www.nnpdf.ca/store.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 10th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 9 ~ Fast Facts

To learn more about the role of a NNPDF Board Member, please follow this link: http://www.nnpdf.org/aboutus_03.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 9th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 8 ~ Fast Facts

8

You can learn more about Niemann-Pick Disease Type C by following this link : http://www.nnpdf.ca/npdisease_01.html#NPC

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 8th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 6 ~ Fast Facts

Gregorio

To learn more about Niemann-Pick Disease Type A (NPA / ASMD) please follow this link:

http://www.nnpdf.ca/npdisease_01.html#ASMD

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 6th, 2015 ~ blg]

Div

October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 5 ~ Fast Facts

Zoe Trina
Mason

To learn more about the inheritance factor associated with NPD and how genetics plays a part please go to the NNPDF web links below:

Niemann-Pick Type A: http://www.nnpdf.ca/npdisease_11.html
Niemann-Pick Type B: http://www.nnpdf.ca/npdisease_12.html
Niemann-Pick Type C: http://www.nnpdf.ca/npdisease_13.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 5th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 4 ~ Fast Facts

For more information on NNPDF current fundraisers and NPD Awareness events, visit: 
http://www.nnpdf.ca/donorinfo_13.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 4th, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 3 ~ Fast Facts

For information on ALL types of Niemann-Pick Disease, visit:
http://www.nnpdf.org/npdisease_01.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 3rd, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 2 ~ Fast Facts

D2

For information on ALL types of Niemann-Pick Disease, visit: http://www.nnpdf.ca/npdisease_01.html

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 2nd, 2015 ~ blg]

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October 2015 ~ GLOBAL ~ Niemann-Pick Disease Awareness Month
Day 1 ~ Fast Facts

Day1

For information and additional tools on how YOU can help raise awareness this month for Niemann-Pick Disease Month, visit the 2015 October GLOBAL Niemann-Pick Disease Awareness Month Page.

For a quick review of all the posts follow this link: http://www.nnpdf.org/2015OctAwarenessDailyPosts.html

[Oct 1st, 2015 ~ blg]

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Banner

In preparation for Global October Niemann-Pick Disease Awareness month, the NNPDF Central Office has some great ways to get you, your extended family and community involved in raising awareness for NPD!

For all of our families hosting FR & Awareness events ~ we encourage our family membership to reach out with words of encouragement!  Better yet, if you know of family & friends who live nearby ~ notify them of the event!  The more the merrier!

UPDATE:  We WANT your photos!  The NNPDF will once again be posting the “NPD Fact of the Day” every day in October to help with awareness!  We will utilize photos of ALL our NPD loved ones as we develop these daily posts.  If you are interested in having your loved one’s photo to be included on one of the “Fact Posts” please e-mail them to:  nnpdf@nnpdf.org   For more details see my weekly post, as well as the following topics:

  1. Upcoming Fundraisers ~ this week!
  2. Custom Facebook Cover Photos & Icon Graphics (let us do the work for you!! )
  3. NPD Facts of the Day ~ Calling for all NPD children/young adult photos!

Follow this link for updates on these and other topics: http://www.nnpdf.org/donorinfo_13.html#Sep282015

[Sep 28th, 2015 ~ blg]

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September 2015 e-Newsletter ~ Now Online

Banner

Dear NNPDF Families and Friends,

The NNPDF September 2015 e-Newsletter is available! Highlights include:

  • NNPDF 2015 Family Conference Recap
  • Clinical Trials: Updates & Recruitment
  • Global October Awareness Month
  • Reminders from Chris Klauer, Family Services & Marketing Coordinator

Click here to view the NNPDF September 2015 e-Newsletter!

[Sept 15th, 2015 ~ blg]

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AUGUST 2015 e-Newsletter ~ Now Online

Banner

Dear NNPDF Families and Friends,

The NNPDF AUGUST 2015 e-Newsletter is available! Highlights include:

  • NNPDF 2015 Family Conference Recap
  • Equipment Exchange Update
  • Research & Clinical Trial Updates
  • Reminders from Chris Klauer, Family Services & Marketing Coordinator

Click here to view the NNPDF August 2015 e-Newsletter!

[Aug 18th, 2015 ~ blg]

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2015 Family Conference ~ Events, Travel Tips & Tid-bits e-Blast!

FC

Dear NNPDF Families and Friends,

In preparation for this week's conference, we've put together an e-Blast for our attendees to help you anticipate all that the conference has in store, as well as, some tips and tid-bits to make your time in Chicago fun and easy for everyone!

Click here to view the 2015 NNPDF Family Conference e-Blast!

If you have any questions about the conference or the information contained in the attached “e-news blast” ~ please feel free to contact the NNPDF Central Offices at: nnpdf@nnpdf.org or 1-877-287-3672.

Looking forward to welcoming you all to the “Windy City” on Thursday ~ “Where the Winds of Hope are on the Horizon!

Safe travels,
Nadine

[Aug 3rd, 2015 ~ blg]

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JULY 2015 e-Newsletter ~ Now Online

Banner

Dear NNPDF Families and Friends,

The NNPDF July 2015 e-Newsletter is available! Highlights include:

  • 23rd Annual NNPDF Family Support and Medical Conference
  • NNPDF Equipment Exchange Update
  • Research & Clinical Trial Updates
  • Reminder from Chris Klauer, Family Services & Marketing Coordinator
  • 2015 NNPDF Board Meeting ~ at the 23rd Annual Family Conference

Click here to view the NNPDF June 2015 e-Newsletter!

[July 22nd, 2015 ~ blg]

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cap

Hello NNPDF Families and Friends,

The NNPDF is pleased to announce to our Niemann-Pick Type B (ASMD) patient community a new “Qualitative Research Phase” titled:  Patient Reported Outcome (PRO) sponsored by Genzyme.  Patient-Reported-Outcome (PRO) instruments are measures self-reported by patients, about disease symptoms and impact, as well as impact of treatment.  Please review the attached announcement which further details the patient interview study and the essential component this information plays in support of the entire ASMD community.

In addition, the NNPDF has been able to work collaboratively with representatives from Genzyme and Evidera (the research consulting firm engaged to oversee this project) will be on-site to conduct “face-to-face” family and patient interviews at the upcoming 23rd Annual NNPDF Family Support and Medical Conference to be held in Chicago, Illinois ~ Thursday, August 6th thru Sunday, August 9th, 2015. 

Please follow this link to read the full Genzyme announcement:  Click here to read the full press release

For more information pertaining to the NNPDF Family Conference:  http://nnpdf.org/familyservices_03.html

[Jul 22nd, 2015 ~ blg]

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F

Here at the NNPDF we appreciate all of those that are working together raising funds to help support our programs and promote research to find a cure for all of those affected by NPD.

Updates this week highlight the following topics:

  • NNPDF Promotional Products ~ Bravelets
  • NNPDF “Recipes for Success” ~ Home Party Fundraisers
  • NNPDF Awareness Posters

To read more on ways in which the NNPDF is able to assist you with your NPD fundraising and awareness events and campaigns ~ follow this link….

Visit the NNPDF Fundraising page to view the full post

We WILL Persevere in our Quest for a Cure!

 

[Jul 6th, 2015 ~ nmh]

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g

From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

In support of all in our NPD patient & family membership community, I will be posting weekly informational updates and NNPDF related resource opportunities.  These posts will cover a broad range of topics and I welcome you to share any resources which you have identified and/or contact me if you need specific assistance with an issue.

This week I thought it would be nice to concentrate on the upcoming Holiday!  The 4th of July is a time when families do a great many activities as they spend time with family and friends.   This post has a story board, fun activities and reminders on how to avoid overload!

As the NPD community receives more information on experimental therapies and opportunities for involvement in clinical trials, I thought it timely to share an important NNPDF resource web page and article titled:  “Thinking About Experimental Therapies”, which offers tools to assist your family in addressing this vital decision. 

Preparations for the upcoming 23rd Annual Family Support and Medical Conference continue and the foundation has lined up an exceptional list of speakers for this event.  In addition, we are pleased to announce that the Loews Chicago O’Hare Hotel site choice was recently named one of the TOP 11 Airport hotels around the world by USA Today! 

Please contact me at: nnpdf@nnpdf.org or give me a jingle at: 1-877-287-3672 if you have any questions pertaining to the work of the foundation.  If you find a great resource, please pass it along so I can share it with the rest of our NNPDF Family Membership!

Have a great weekend!

To read the full update, visit the Family Support & Updates page.

Chris Klauer
NNPDF Family Support and Marketing Coordinator

[Jul 2nd, 2015 ~ blg]

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JUNE/JULY 2015 CCNNPDF e-Newsletter ~ Now Online

news

Dear Niemann-Pick Disease Families and Friends,

The CCNNPDF June/July 2015 e-Newsletter is available ~ Highlights include:

  • The 23rd Annual NNPDF Family Support and Medical Conference
  • Message from the NNPDF Board of Directors
  • APMRF Conference
  • CCNNPDF Membership ~ Action Required 
  • INPDA New Website
  • Clinical Trial News and Updates

Click here to view the CCNNPDF June/July 2015 e-Newsletter!

[July 1st, 2015 ~ blg]

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Research Publication:
Successful Within-patient Dose Escalation of
Olipudase Alfa in Acid Sphingomyelinase Deficiency (ASMD)

Wass

The NNPDF Central received notification of a recent on-line publication highlighting the work of Dr. Melissa Wasserstein, and the invaluable work that she has been doing to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Wasserstein's work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF) since October of 2014.

An article was published in Elsevier's Molecular Genetics and Metabolism magazine online that we wanted to share with the ASMD community.

Click here to read the full article:
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Follow this link to learn more about Dr. Wasserstein's specific research:  http://nnpdf.org/npresearch_05.html

[Jun 25th, 2015 ~ blg]

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g

From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

In support of all in our NPD patient & family membership community, I will be posting weekly informational updates and NNPDF related resource opportunities.  These posts will cover a broad range of topics and I welcome you to share any resources which you have identified and/or contact me if you need specific assistance with an issue.

One thing I have learned from my many years of teaching students with special needs is that behind every child or adult is an awesome parent or caregiver supporting and addressing their every need.  Therefore, my post this week focuses on “Caring for the Caregiver” and Respite Care.  I have also included a quick “tid-bit” about the upcoming Chicago Family Conference.  Please review the NNPDF Family Services web page for my weekly posts and links to resources.

You can always reach me at: nnpdf@nnpdf.org or call me at 1-877-287-3672. I look forward to the opportunity to help you find resources related to your situation/issue and welcome hearing of the “tricks-of-the-trade” that you have learned and identified in your journey.

Have a great weekend!

~ Chris

[Jun 19th, 2015 ~ cdk]

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JUNE 2015 e-Newsletter ~ Now Online

Banner

Dear NNPDF Families and Friends,

The NNPDF June 2015 e-Newsletter is available! Highlights include:

  • 23rd Annual NNPDF Family Support and Medical Conference
  • Update ~ A Message from your Foundation Board of Directors! Becky McGuire, NNPDF Development Committee Chair
  • 2015 Michael, Marcia & Christa Parseghian Scientific Conference for NPC
  • NNPDF Membership Registration Announcement
  • INPDA ~ New Website
  • Clinical Trial News & Updates ~ Genzyme & Vtesse Press Releases

Click here to view the NNPDF June 2015 e-Newsletter!

[June 16th, 2015 ~ blg]

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A Message from Becky McGuire, NNPDF Development Chair
Dateline: June 8th, 2015

Becky McGuire Kelly
Becky McGuire
Cousin of...
... Kelly Thompson
NPC

Dear NNPDF Families and Friends,

New for 2015, the NNPDF Board of Directors rolled out a new communication strategy which we hope will assist you in feeling more connected with the work of the foundation and your Board Representatives. This new communication strategy offers the foundation a unique opportunity to share on-going efforts, as well as new and existing programs, projects and activities being addressed on your behalf, our family membership and NNPDF key stakeholder’s. Crucial to the role of the foundation is that of “communication liaison” between pharmaceutical and research agencies working to bring innovative therapies to our NPD patient community via clinical trials.

Today, we wish to share with you an update from the 2015 Development Committee Chair, Becky McGuire, of Torrington, Connecticut. Becky serves on the foundation board in a volunteer capacity and in honor of her cousin, Kelly Thompson (NPC, age 36 years).

Dev

The NNPDF Board of Directors (BoDs) wrapped up our annual board meeting in early March 2015 in Chicago, Illinois.  On Tuesday, March 24th, the first BoDs update was penned by the sitting 2015 NNPDF Board Chair, Leslie Hughes, which was followed by the Nominations Board Chair, Lisa Chavez's post on March 31st, 2015.  On April 16th, 2015 the foundation Finance Chair, Jill Flinton, shared her background and updates on the financial condition and efforts of the NNPDF.  Please find “quick links” to all of these previous posts below.

Click here to view Leslie Hughes, Board Chair's Message to the Community
Dateline March 24th, 2015

Click here to view Lisa Chavez, Nomination Chair's Message to the Community
Dateline: March 31st, 2015

Click here to view Jill Flinton, Finance Chair's Message to the Community
Dateline: April 16th, 2015

Click here to view Becky McGuire, Development Chair's Message to the Community
Dateline: June 8th, 2015

If you should have any questions related to this information and/or update ~ please feel free to contact the foundation for assistance.

[June 8th, 2015 ~ blg]

Div

 

Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
June 4th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to share a Press Release from Genzyme, a Sanofi Company, (dtd: Thursday, June 4th, 2015) which announces that the United States Food and Drug Administration (FDA) has granted “Breakthrough Therapy” designation to olipudase alfa. This enzyme replacement therapy (ERT) is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Disease type B.

“Breakthrough Therapy” designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions which have an unmet therapy or medical treatment.

This is the FIRST time that Genzyme has had a product receive the FDA “Breakthrough Therapy” designation and only the second for all of Sanofi! The NNPDF has also been advised that the foundation’s participation, along with our NPB patients and family membership in the April 29th, 2015 ground-breaking meeting with FDA regulatory representatives, played a key role in ensuring that this FDA “Breakthrough Therapy” designation was granted. The opportunity afforded to the NPB (ASMD) patient community through that meeting and this designation is ground-breaking for the Rare Disease Community.

The meeting objective from April 29th, 2015 was described and developed under the following guideline:

Under the fifth authorization of the Prescription Drug User Fee Act (PDUFA V), FDA committed to more systematically gather patient’s perspectives of their condition and available therapies to treat their condition. The upcoming meeting on April 29th with the NNPDF and some of their members is an opportunity for FDA and members of the Niemann-Pick community to engage in a unique dialogue to help ensure the patient perspective of living with Niemann-Pick B is better understood. This meeting represents a new opportunity for the rare disease community to continue their partnership with FDA.

CAMBRIDGE, Mass. - Genzyme, a Sanofi company, announced today that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B, as opposed to type A which is characterized by neurological involvement. ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase (ASM), which results in toxic accumulation of sphingomyelin. There are currently no approved treatment options for patients with Niemann-Pick disease type B.

Breakthrough Therapy designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions. The criteria for granting Breakthrough Therapy designation are preliminary clinical evidence of substantial improvement on a clinically significant endpoint over available therapies. The Breakthrough Therapy designation is distinct from the FDA’s other mechanisms to expedite drug development and review, and will allow for a close collaboration between Genzyme and the FDA on the olipudase alfa development program.

According to the FDA website the benefits of a breakthrough therapy designation are:

Breakthrough therapy designation is intended to expedite the development and review of drugs for serious or life-threatening conditions. The criteria for breakthrough therapy designation require preliminary clinical evidence that demonstrates the drug may have substantial improvement on at least one clinically significant endpoint over available therapy.

A breakthrough therapy designation conveys all of the fast track program features (see below for more details on fast track designation), more intensive FDA guidance on an efficient drug development program, an organizational commitment involving senior managers, and eligibility for rolling review and priority review. Section 902 of FDASIA requires the following actions, as appropriate:

  • holding meetings with the sponsor and the review team throughout the development of the drug
  • providing timely advice to, and interactive communication with, the sponsor regarding the development of the drug to ensure that the development program to gather the nonclinical and clinical data necessary for approval is as efficient as practicable
  • taking steps to ensure that the design of the clinical trials is as efficient as practicable, when scientifically appropriate, such as by minimizing the number of patients exposed to a potentially less efficacious treatment
  • assigning a cross-disciplinary project lead for the FDA review team to facilitate an efficient review of the development program and to serve as a scientific liaison between the cross-discipline members of the review team (i.e., clinical, pharmacology-toxicology, chemistry, manufacturing and control, compliance) for coordinated internal interactions and communications with the sponsor through the review division’s Regulatory Health Project Manager
  • involving senior managers and experienced review staff, as appropriate, in a collaborative, cross-disciplinary review

Visit the NNPDF Enzyme Replacement Therapy web page to view the full press release, for more information regarding the FDA's Breakthrough Therapy & see the full history of the ERT clinical trial campaigns!

[Jun 4th, 2015 ~ blg]


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MAY/JUNE 2015 CCNNPDF e-Newsletter ~ Now Online

news

Dear Niemann-Pick Disease Families and Friends,

The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) is excited to introduce our very first, but certainly not our last, monthly e-Newsletter! 

The May/June 2015 e-Newsletter highlights include:

  • Think Again. Think NPC. CANADA!!
  • The 23rd Annual NNPDF Family Support and Medical Conference
  • Research Progress Reports
  • Clinical Trial News and Updates
  • CCNNPDF Membership ~ Action Required 
  • CCNNPDF Fundraising
  • Meet the CCNNPDF Members of the Board

 

Click here to view the CCNNPDF May/June 2015 e-Newsletter!

[June 2nd, 2015 ~ blg]

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MAY 2015 e-Newsletter ~ Now Online

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Dear NNPDF Families and Friends,

The NNPDF May 2015 e-Newsletter is available! Highlights include:

  • 23rd Annual NNPDF Family Support and Medical Conference
  • Update ~ A Message from your Foundation Board of Directors! 
  • NNPDF Membership ~ Action Required 
  • NNPDF Fellowship Research Progress Reports
  • Clinical Trial News & Updates 
  • Fundraising & Recipes for Success

Click here to view the NNPDF May 2015 e-Newsletter!

[May 19th, 2015 ~ blg]

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Orphazyme Announcement:
Orphazyme Clinical Trial Development Update on Arimoclomol in NPC
Dateline: 05/11/2015

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation has been advised by Orphazyme that an “Observational” clinical study for NP-C, tied to their clinical development program of arimoclomol in NPC, has been registered and made available on www.clinicaltrials.gov.  The link to the information pertaining to just this trial is at: https://clinicaltrials.gov/ct2/show/NCT02435030?term=02435030&rank=1

This information was updated as of April 30, 2015. 

At this time, no site in the United States has been announced and currently the study is not open for participant recruitment.  Orphazyme has indicated that they are targeting a clinical trial to start date in the United States toward the end of first quarter 2016.  As we receive further announcements and updates, it will be posted to our NPD family community! 

You can read either the full text view or the tabular view depending upon your preference.  The text allows you to see the inclusion and exclusion information along with the primary outcome measures they will be looking at. 

Sincerely,

Nadine M. Hill
Executive Director
National Niemann-Pick Disease Foundation

[May 11th, 2015 ~ blg]

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A Re-Introduction to the Canadian Chapter of the National Niemann-Pick Disease Foundation

CCNNPDF

Dear NNPDF Families and Friends,

Many of you may not be aware of the fact that NNPDF has a sister chapter in Canada.  The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) and the NNPDF work collaboratively to help support families and research to find treatments and a cure for all types of Niemann-Pick Disease.  The NNPDF office in the United States provides administrative, marketing and family support for the CCNNPDF.  Please see the new CCNNPDF e-newsletter to learn more about what is on the horizon for our families and friends in Canada.

Click here to view the CCNNPDF e-Newsletter

All my best,

Nadine Hill
NNPDF Executive Director

[May 7th, 2015 ~ blg]

 

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FDA & NPB Patient Groundbreaking Meeting
held on
Wednesday, April 29th, 2015


NNPDF & Genzyme FDA Panel Representatives
in front of the Food and Drug Administration Building at
the White Oak Campus in Silver Spring, Maryland.

Front row:  Lillian Saeger (NNPDF), Trina Paulk (NNPDF), Sharon Tan (Genzyme), Sandra Cowie (NNPDF),
Ana Puga (Genzyme) Back row:  Rumana Haque-Ahmed (Genzyme), Joshua Karie (NNPDF), Jamie Ring (Genzyme),
Nadine Hill (NNPDF), Elissa Miller-Visoky (NNPDF), Sherwin Sattarzadeh (Genzyme)

Dear NNPDF Families and Friends,

Recently, the leadership of the NNPDF was approached by representatives from Genzyme (A Sanofi Company) regarding a ground-breaking opportunity for our Niemann-Pick Type B patient community.  Representatives from the United States Food and Drug Administration (FDA) involved with the regulatory aspects of the upcoming Genzyme pediatric and adult Enzyme Replacement Therapy Clinical Trials had asked to meet with members of the NPD Type B patient community.

The meeting objective was described and developed under the following guideline:

Under the fifth authorization of the Prescription Drug User Fee Act (PDUFA V), FDA committed to more systematically gather patient’s perspectives of their condition and available therapies to treat their condition. The upcoming meeting on April 29th with the NNPDF and some of their members is an opportunity for FDA and members of the Niemann-Pick community to engage in a unique dialogue to help ensure the patient perspective of living with Niemann-Pick B is better understood.  This meeting represents a new opportunity for the rare disease community to continue their partnership with FDA.

The NNPDF was thrilled to be able to assist in coordinating this meeting which took place on Wednesday, April 29th at the FDA offices in Silver Spring, Maryland.  The NPB patient representatives from our Niemann-Pick community had the opportunity to share their stories with the FDA.  As Executive Director of the NNPDF, Nadine Hill was honored to be asked to moderate the session between patients and parents of patients living with NP disease, who in turn, engaged reviewers at the Division of Gastroenterology and Inborn Errors Products and senior FDA staff in an open discussion of diagnostic history, symptoms, and challenges associated with their disease.

Approximately fifteen FDA representatives listened attentively and asked clarifying questions probing the variability and heterogeneity of NP disease signs and symptoms.  The meeting had a very positive tone with FDA staffers creating a comfortable and informal environment allowing for a back and forth discussion with the NP representatives.

When asked about their impressions of the meeting, the FDA regulatory project manager and lead medical reviewer noted that these discussions provide tremendous value to the FDA.

Deep gratitude and thanks go out to the NPD Type B patient panel participants without whom this meeting would not have been possible. A special thank you to Alan Gilstrap and Jamie Ring from Genzyme's Patient Advocacy group for their support of this successful meeting.

The NNPDF will provide further updates and feedback from this meeting and the impending US ASMD patient clinical trials as they become available.

Genzyme Attendees:

  • Jamie Ring – Vice President, Patient Advocacy-Rare Diseases and Humanitarian Programs
  • Rumana Haque-Ahmed – Associate Vice President, Regulatory Affairs Rare Diseases
  • Sharon Tan – Global Project Head, Niemann-Pick
  • Ana Puga – Medical Director, Clinical Development Rare Diseases
  • Sherwin Sattarzadeh – Director, Regulatory Affairs Rare Diseases

NNPDF Family Membership Representatives:

  • Sandy Cowie ~ NPB Adult Patient; Toronto, Canada
  • Trina Paulk ~ NPB Adult Patient; Douglasville, Georgia
  • Joshua Karie ~ NPB Adult Patient; Gilbert, Arizona
  • Elissa Miller ~ Parent of a NPB pediatric patient; New York, New York
  • Lillian Saeger ~ Parent of a NPB pediatric patient; Severna Park, Maryland
  • Nadine Hill ~ NNPDF Executive Director; Fort Atkinson, Wisconsin

[May 1st, 2015 ~ blg]

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Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development
Efforts Pediatric Trial
April 24th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released a statement with additional details about the pediatric Phase 1 / 2 clinical trial of recombinant human acid sphingomyelinase (rhASM).

Visit the NNPDF Enzyme Replacement Therapy web page to view the the statement

[Apr 24th, 2015 ~ blg]

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Dear NNPDF Families and Friends,

The NNPDF April 2015 e-Newsletter is available! Highlights include:

  • 23rd Annual NNPDF Family Support and Medical Conference ~ Dates & Hotel Location
  • Welcome ~ New NNPDF Board Members and Staff
  • NNPDF Fellowships ~ Request for Applications - Deadline: May 15th, 2015
  • Clinical Trial Updates
  • NNPDF Equipment Exchange

Click here to view the NNPDF April 2015 e-Newsletter!

[Apr 21st, 2015 ~ blg]

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A Message from Jill Flinton, NNPDF Finance Chair
Dateline: April 16th , 2015

Jill Daniel
Jill Flinton 
Mother of...
... Daniel Flinton, NPC  
12/07/06 - 11/11/11

Dear NNPDF Families and Friends,

New for 2015, the NNPDF Board of Directors rolled out a new communication strategy which we hope will assist you in feeling more connected with the foundation and your Board Representatives. This new communication strategy offers us a unique opportunity to share on-going foundation efforts, programs, projects and activities being addressed on your behalf, our family membership and NNPDF key stakeholder’s.

Today, we wish to share with you an update from the 2015 Finance Committee Chair, Jill Flinton, of Charlton, New York, who serves on the foundation board in a volunteer capacity and in memory of her son, Daniel.

Click here to view Jill Flinton's Message to the Community
Dateline: April 16th, 2015

Click here to view Lisa Chavez's Message to the Community
Dateline: March 31st, 2015

Click here to read Board Chair. Leslie Hughes Message to the Community
Dateline March 24th, 2015

[April 16th, 2015 ~ blg]


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A Message from Lisa Chavez, NNPDF Nominations Chair
Dateline: March 31st, 2015


Chavez Breann Chavez
Lisa Chavez 
Mother of...
...Breann Chavez, NPC
2/10/03 - 6/8/06

Dear NNPDF Families and Friends,

Last week the NNPDF Board of Director’s rolled out a new website page designed specifically for Board related updates which will provide a NEW way for your Board Representatives to communicate with you, our family membership and key stakeholder’s.

As we shared with you last week, the NNPDF Board of Director’s wrapped up our annual board meeting earlier this month in Chicago, Illinois. Last week Tuesday, March 24th, 2015, the first post came from the 2015 NNPDF Board Chair, Leslie Hughes, who resides in Wichita Falls, Texas and serves on the foundation board in memory of her great-niece, Riley Corbitt.

Today, we wish to share with you an update from the 2015 Nominations Committee Chair, Lisa Chavez, of Farmington, New Mexico, who serves on the foundation board in memory of her daughter, Breann.

Click here to view Lisa Chavez's Message to the Community
Dateline: March 31st, 2015

Click here to read Board Chair. Leslie Hughes Message to the Community
Dateline March 24th, 2015

 

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A Message from Leslie Hughes, NNPDF Board Chair
Dateline: March 24th, 2015


Leslie Hughes Riley Corbitt
Leslie Hughes 
Great-Aunt of...
...Riley Corbitt, NPC
07/27/02-10/29/08

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation (NNPDF) Board of Directors is pleased to announce a new feature to the NNPDF web site titled, ‘From the Board’. This web page has been created as a way for you to get the latest updates directly from the members of your Board as to the work which is addressed at the foundation and within the various committees. The Board is continuously looking for ways to best communicate information and updates. This is the first of upcoming messages from your ‘Board of Directors’ over the next few weeks and months ahead and we will continue to provide updates periodically as to the“happenings” of the Board and foundation as we move on through the year. 

“The NNPDF Board of Director’s has just completed our annual meeting and wish to provide the entire NPD community with an update. Through this link you will find a new page on the website designed specifically for Board related updates. First up, a message from the 2015 NNPDF Board Chair, Leslie Hughes.”

Please follow this NEW web link below for an update to the NNPDF membership from the Foundation Board Chair, Leslie Hughes.

Click here to read Board Chair, Leslie Hughes Message to the Community

 

[March 24th, 2015 ~ blg]

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Dear NNPDF Families and Friends,

The NNPDF March 2015 e-Newsletter is available! Highlights include:

  • 23rd Annual NNPDF Family Support and Medical Conference ~ Dates & Hotel Location
  • Coach Matt Painter wins $100,000 for NPC Research
  • World Rare Disease Day 2015
  • Vote Jim Green ~ INPDA ~ United Kingdom Volunteer of the Year
  • 2015 NNPDF Annual Board Meeting

Click here to view the NNPDF March 2015 e-Newsletter!

[Mar 17th, 2015 ~ blg]

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Phase 2/3 Adult and Phase 1/2 Pediatric Clinical Trial of rHASM for ASMD
Clinical Trial Update

Dear NNPDF Families and Friends,

Representatives of the National Niemann-Pick Disease Foundation (NNPDF), Niemann-Pick UK and the International Niemann-Pick Disease Alliance (INPDA) today participated in a teleconference with Genzyme, A Sanofi Company.

We were pleased to learn that plans for the Phase 2/3 Adult and Phase 1/2 Pediatric Clinical trial of rhASM for ASMD Niemann-Pick disease continue to progress. Discussions continue with the regulatory authorities, including the FDA and the EMA and we expect Genzyme to release a more detailed community update soon.

Please contact the NNPDF Central Offices should you have any questions at: nnpdf@nnpdf.org

Visit the NNPDF Genzyme Clinical Trial page for the history and archive of previous updates on these trials: http://www.nnpdf.org/npresearch_11.html

[Mar 11th, 2015 ~ blg]

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Niemann-Pick Disease Clinical Trial Updates:

 - Cyclodextrin (NPC ~ pediatric)

 - Vorinostat (NPC ~ adult)

 - Enzyme Replacement Therapy (ASMD ~ pediatric)

 

Niemann-Pick Disease Research “In the News”:

 - Penn Vet Researchers Identify Effective Treatment for Niemann-Pick Disease Type C

 

Denny Porter

Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

Dear NNPDF Families and Friends,

In tandem with World Rare Disease Day 2015 and in support of our NPD families WORLD-WIDE, the National Niemann-Pick Disease Foundation (NNPDF) is pleased to share the most recent research and clinical trial updates within the Niemann-Pick Disease Community.

The NNPDF central offices received the following clinical trial updates from Dr. Forbes D. Porter at the National Institutes of Health (NIH) to share with the NPC membership with regards to recent developments in the Cyclodextrin and Histone Deacetylase Inhibitors (HDACi ~ vorinostat) clinical trials.

Click here to read the latest press release from National Institutes of Health (NIH);dtd: February 27th 2015

For a detailed history of leading up to these two clinical trials, you can visit the NNPDF Cyclodextrin web page and the HDACi webpage

1st Contact
Lee Ann Keener

leeann.keener@nih.gov

(301) 594-2005
Clinical Research Nurse
2nd Contact
Nicole Farhat nicole.farhat@nih.gov
(301) 594-1765
Registered Nurse Clinician/Researcher
  Dr. Forbes D. Porter     Prinicpal Investigator

Genzyme logo

Genzyme Pharmaceuticals, a division of Sanofi, which most recently announced two upcoming clinical trials to begin in 2015 for our Niemann-Pick Disease Type B adult and pediatric patient community (see the press releases here) developed activities around NPB patient families in support of World Rare Disease Day.   Genzyme employees in the Boston area spent the day Friday, February 27th recognizing their focused and directed efforts of support and research towards patients in the Rare Disease Community.  As the ASMD Enzyme Replacement Therapy pediatric clinical trial will soon begin enrolling, and to help Genzyme employees all over the Boston area understand the impact of Niemann-Pick B disease on an individual’s quality of life, Genzyme hosted two families raising children who are growing up with NPB.  Genzyme hosted events throughout the day at all 6 of their Boston area facilities.  You can receive up-to-the minute updates, as well as, a full recap on the day by following Genzyme on Twitter at @genzymecorp via the handle  #genzymerelay!

Genzy
Kalia & Jack


Niemann-Pick Disease Research “In the News”:

Vite
Dr. Charles Vite, D.V.M., Ph.D.

In conjunction with the clinical trial updates noted above, the NNPDF also received notification of a recent on-line publication highlighting the work of Charles Vite, Ph.D, and the invaluable work that he has been doing with the naturally-occurring Niemann-Pick Type C felines at the University of Pennsylvania ~ School of Veterinary Medicine.

Dr. Vite's work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF) since August of 2011. In the summer of 2014, Dr. Vite was granted an extension to his research so as to continue on with his significant work associated with Niemann-Pick Disease Type C. 

An article was published in PennNews online that we wanted to share with the NPC community.

Click here to view the news article

Follow this link to learn more about Dr. Vite's specific research:  http://nnpdf.org/npresearch_05.html

 

[Feb 27th, 2015 ~ blg]

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Be Creative on World Rare Disease Day 2015
February 28th, 2015 ~ WORLDWIDE!

Rare

Dear NNPDF Families and Friends,

Here is a creative way to help raise awareness for Rare Disease Day in honor your rare NPD loved ones!  If you decide to participate, we would love for you to share it with the NNPDF Staff Facebook page, on the NPD Awareness Facebook page or on Twitter with the hashtag #NNPDF

Be creative and join the NNPDF and NORD for WORLD Rare Disease Day 2015!

[Feb 26th, 2015 ~ blg]

 

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Remind

Dear NNPDF Families and Friends,

Just a reminder that the National Institutes of Health will be having their Twitter chat today with leading experts in the field, including NIH Director Dr. Francis Collins and NCATS Medical Consultant, Dr. John Ferguson. 

Check below for your local time:

2:30-3:30 pm (EST) 
1:30-2:30pm (CST)
12:30-1:30pm (MST) 
11:30am-12:30pm (PST)

You can sign up for a Twitter account at www.twitter.com if you don't already have one. To join the discussion, you'll need to post a question to your Twitter page, using the hashtag #NIHchat with it.  This will alert the hosts of this NIH chat to view your question and they will tag you back in their response.

Here is the NIH page showing their past Q&A sessions to give you a better idea of how they do it: http://www.nimh.nih.gov/health/twitter-chats/index.shtml

If anyone has any questions regarding the Twitter chat today, feel free to contact the NNPDF Offices here on Facebook, by phone (920-563-0930) or via e-mail: nnpdfoffice@idcnet.com

[Feb 25th, 2015 ~ blg]

 

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Dear NNPDF Families and Friends,

Join the National Institutes of Health (NIH) on February 25, 2015 from 2:30-3:30 pm (EST) (1:30-2:30pm (CST), 12:30-1:30pm (MST) & 11:30am-12:30pm (PST)) on Twitter to raise awareness for rare diseases and talk to leading experts in the field, including NIH Director Dr. Francis Collins and NCATS Medical Consultant, Dr. John Ferguson. You must have an active Twitter account to participate in this hour long Q&A with the leaders of the NIH.

To join the conversation, log in to your Twitter account, at the above date and time, and use #NIHchat along with your question to receive a reply.

[Feb 23rd, 2015 ~ blg]

 

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Dear NNPDF Families and Friends,

The NNPDF February 2015 e-Newsletter is available! Highlights include:

  • Rare Disease Day ~ 2015
  • WORLD Symposium 2015
  • Expanded Access of Compassionate Use
  • Webinar ~ Young Adult Patients Transition to Medicare
  • $100,000 Online Challenge for NPC Research ~ Round 3
  • 2015 NNPDF Annual Board Meeting

Click here to view the NNPDF February 2015 e-Newsletter!

[Feb 17th, 2015 ~ blg]

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ASMD (Niemann-Pick Disease Type A/B & B) Updates from the 2015 WORLD Symposium

Wass

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation is excited to share with our NPD community family membership research updates presented at the 2015 WORLD Symposium on Lysosomal Disease Research under the direction of:  Dr. Melissa Wasserstein M.D. & Genzyme, a Sanofi Company.  This research is in support of Genzyme’s ongoing efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Melissa Wasserstein, a current two-year grant recipient of the NNPDF, in support of her natural history study of NPD type A & B, is attending the WORLD Symposium as a presenter of her current work titled:

"An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)"

We're also excited to share an additional research abstract presented by Dr. Beth Thurberg, MD, PhD, vice president of Pathology at Genzyme Corporation, titled:

"Hepatic pathology of acid sphingomyelinase deficiency: Clearance of sphingomyelin with recombinant human acid sphingomyelinase administration is associated with improvement in pro-atherogenic lipid profiles"

Further, Dr. Thurberg discusses the results of the ERT Phase 1B clinical trial in the video below addressing the clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease.

The NNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released an official press announcement with details of the adult Phase 2/3 of recombinant human acid sphingomyelinase (rhASM).

Genzyme Presents Data from its Phase 1b Program for Niemann-Pick Type B at the Lysosomal Disease Network’s WORLD Symposium 2015

Dateline: February 12th, 2015

"CAMBRIDGE, Mass. --Genzyme, a Sanofi company, today presented data from its Phase 1b clinical study at the Lysosomal Disease Network’s WORLD Symposium 2015 in Orlando, Fla. detailing the investigational use of enzyme replacement therapy in the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease type B), a lysosomal storage disease caused by genetic mutations that affect the metabolism of sphingomyelin. The Genzyme study evaluated the tolerability and safety of olipudase alfa (recombinant human acid sphingomyelinase) in five adult patients with ASMD. 

Melissa P. Wasserstein, MD, Director of the Program for Inherited Metabolic Diseases; Medical Director of the International Center for Types A and B Niemann Pick Disease, Mount Sinai School of Medicine, presented: An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD). In the trial, each patient received a starting dose of intravenous olipudase alfa at 0.1 mg/kg and escalated dosing every two weeks according to a predetermined schedule up to 3 mg/kg or their maximum tolerated dose. The secondary objective was to study the pharmacokinetics, pharmacodynamics, and exploratory efficacy of olipudase alfa administered every two weeks for 26 weeks. The study findings showed that the dose escalation regimen was well tolerated, with all patients reaching the maximum dose of 3 mg/kg. No serious or severe adverse events or deaths were reported. The data presented on the repeat-dose safety, pharmacodynamics, and exploratory efficacy of olipudase alfa support its continued development for the investigational use in non-neurological manifestations of ASMD. All five patients are participating in the Long-Term Study and will continue on therapy.  

"Though a small number of patients, the response we have observed to date is an early indication that this ASM enzyme replacement therapy is promising for this therapeutic area,” said Genzyme’s Acting Head of Rare Diseases, Richard Peters, M.D., Ph.D. “We look forward to continuing this program and learning more as we work toward advancing a treatment option to patients that is both safe and well tolerated.” Genzyme plans to begin enrolling patients in a Phase 2 program for Niemann-Pick Type B in 2015."

Click here to view the official press release in PDF format

The NNPDF and all of the members of our ASMD family community wish to extend a HUGE note of thanks to the 5 Phase 1B clinical trial participants in and taking on this brave effort which involved extreme commitment of time, travel, work and family involvement in support of the wider ASMD (NPD Type B) community and patients worldwide.

We will continue to bring you the latest research from the Symposium floor as it is made available to us.  In the meantime, you can read all the abstract research on the NNPDF WORLD Symposium web page.

**Abstract publication notice.

Published in the February 2015 special “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM). Articles and full text of the abstracts from this issue can be purchased individually from Elsevier. The journal has been published and is available online (click here)

http://www.journals.elsevier.com/molecular-genetics-and-metabolism/open-access-articles/



[Feb 12th, 2015 ~ blg]

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WORLDSymposium 2015

Dear NNPDF Families and Friends,

Members of the NNPDF, CCNNPDF, INPDA and the International NNPDF Scientific Advisory Board are currently in attendance at the WORLD (We’re Organizing Research for Lysosomal Diseases) in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015.  The attendees are filling a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders:  Treatment, Biomarkers and Talent needed to succeed in the Future.

The goal of the WORLD (We're Organizing Research for Lysosomal Diseases) symposium is to provide a forum to discuss the challenges to research and development of treatments for patients with rare diseases, and to identify opportunities to support the advancement of therapeutic options. Clinicians and researchers who work with lysosomal diseases will have the opportunity to learn about the progression of research and therapy approval processes for a variety of different diagnoses and therapies via face-to-face lectures and in-depth discussion with a panel of experts. This symposium is designed to help patient advocates, scientists, clinicians and other health care professionals identify what resources and actions will be needed to move lysosomal disease research forward.

To view those in attendance, as well as, the latest updates and abstracts regarding NPC & ASMD, visit the NNPDF WORLD Symposium web page.


[Feb 11th, 2014 ~ blg]

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Important Message from the NNPDF Board of Director's

MEMO: To the Membership of the NNPDF.

  FROM: NNPDF Board of Directors (http://www.nnpdf.org/aboutus_03.html)

  DATE: Monday, February 9th, 2015

Dear NNPDF Families and Friends,

It has come to our attention that a recent private Facebook group has been developed containing posts indicating their perspective on the financial status of the National Niemann-Pick Disease Foundation (NNPDF).

On August 28, 2014, members of the NNPDF Board of Directors, along with the foundation’s legal counsel, provided a conference call to all members of the NNPDF.  An announcement pertaining to this informational toll-free NNPDF membership conference call was shared with our foundation membership through various avenues of posts and social media updates.

(*Please see the specific web links below.)

As advised by the foundations legal counsel and, as agreed to by the NNPDF Board of Directors, we responded to a number of accusations regarding the financial status of the NNPDF.  During this call, which was recorded, NNPDF members were afforded the opportunity to submit questions which were addressed during the call.  In addition, an opportunity for follow-up questions was also made available to our foundation members. 

During the conference call we advised the NNPDF membership that an unannounced “special review” of the financial records of the foundation was performed at the NNPDF Central Offices in April of 2014.   The official report from the hired CPA recapping their findings stated that no financial discrepancies were found. 

The unannounced “special review” of the financial records of the foundation did result in several management recommendations, which is standard in any audit report.  Most of these recommendations were already in practice at the NNPDF, and the ones which were not, were evaluated by the full Board of Director’s and were either implemented or found not practical due to the size of our Foundation.

In addition, the Foundation also underwent its own annual audit by a Certified Public Accounting (CPA) firm, performed on August 27th, 2014, which also resulted with no significant findings.  The resulting 2013 National Niemann-Pick Disease Foundation IRS Federal Tax Form 990 may be found on the NNPDF web site at: http://www.nnpdf.org/aboutus_11.html

As the NNPDF Board of Directors indicated during the NNPDF member conference call ~ going forward the NNPDF Board of Directors and Staff would be focusing on our day-to-day operations and providing the essential family program services, informational resources & referrals, and research advances to our families and foundation membership.

To continue addressing these unfounded allegations only serves to take away precious time from the work that the Foundation is committed to providing to our family membership.

We WILL Persevere in OUR Quest for a Cure!

Sincerely,

Your NNPDF Board of Directors  (http://www.nnpdf.org/aboutus_03.html )


*NNPDF Web links as mentioned in the above statement and available to all NNPDF membership:

  [Feb 9th, 2015 ~ blg]

 

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WRDD

Dear NNPDF Friends and Families,

In preparation for World Rare Disease Day, the NNPDF central offices are offering to create custom Facebook & NEW Twitter graphics to honor your NPD loved ones!

Similar to graphics done in the past, we've created these for our families to help spread awareness between now & World Rare Disease Day on February 28th, 2015.  This year we've expanded to Twitter covers for those who are more inclined to use that social network.

To request a custom cover/icon:

  1. E-mail the NNPDF Central Office at: bgreen@nnpdf.org.
  2. Include a favorite photo of your child (.jpeg or .png is preferred) and advise of their name (first and last), and disease type (NPC, NPA, NPB).  If you have sent us a photo previously for a custom  graphic, you can specify to use the last photo you sent as well.
  3. Specify if you are in the US, Canada or UK for the appropriate banner
  4. You can request graphics for Facebook, Twitter or both if you prefer.

We will be happy to quickly create the following graphics for you to use. The NNPDF Central Office will e-mail these directly back to you.

Spencer sp
T M
e s

~ E-mail: bgreen@nnpdf.org with the requested information above.  The NNPDF will develop and e-mail back to you in time for Rare Disease Day 2015! 

Keep an eye on the NNPDF World Rare Disease web page for additional updates as we get closer to February 28th, 2015.

[Feb 4th, 2014 ~ blg]

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Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts Adult Trial
January 28th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF is pleased to provide you with the following update from Genzyme, a Sanofi Company, on NEWLY released information about the adult Phase 2 / 3 clinical trial of recombinant human acid sphingomyelinase (rhASM).

Visit the NNPDF Genzyme web page to view the full announcement

Please be advised of the following details associated with the adult Phase 2 / 3 clinical trial #:  NCT02004691:

  • The study is NOT yet open for patient recruitment
  • Inclusion / Exclusion criteria are provided in the post
  • Estimated enrollment of 35 adult patients
  • MUST be 18 years and older
  • The number of country clinical sites and locations has NOT yet been determined ~ but there will be clinic sites in multiple countries.
  • More information is detailed at the trial page link here.  

[Jan 28th, 2015 ~ blg]

Div

 

Nov

Dear NNPDF Families and Friends,

The NNPDF January 2015 e-Newsletter is available! Highlights include:

  • Clinical Trial News and Updates
  • Infiniti Coaches Charity Challenge
  • 2015 NNPDF Board Meeting
  • 2015 NNPDF Family Conference

Click here to view the NNPDF January 2015 e-Newsletter!

[Jan 20th, 2015 ~ blg]


Elisha Elaine Kudrna
04/19/1994 ~ 11/12/2014

 

Dear NNPDF Families and Friends,

It is with heavy hearts that the NNPDF central office notify the foundation membership of Elisha Elaine Kudrna's passing. Daughter of Jeff & Monica Kudrna & beloved sister to brother Daniel, Elisha lost her battle with Niemann-Pick type A/B on November 12th, 2014.  She passed away at home, surrounded by her family at the age of 20.

Elisha's mother, Monica, wrote to us in memory of her beautiful daughter:

"She was a bright star in our family, and now she shines eternally in heaven.

She endured so many obstacles in her life, but none of them did she not conquer without a smile. With our faith in God, we know that Elisha had a full purpose in this life, and she is now in heaven with a healed body, dancing and singing loudly.  As we miss her with aching hearts every day, we are reassured that we will see her again."

Our loving support and hearts go out to the Kudrna family as they move ahead. Please know that your NPD family and community grieves with you ~ and ~ will be keeping all who loved Elisha and held her dear in our thoughts and hearts in the days, weeks and months ahead.

 

[Jan 6th, 2015 ~ blg]

 



Dear NNPDF Families and Friends,

Today, as we all take time to reflect on the past year, the NNPDF community has quite a number of uplifting and positive milestones upon which to reflect  for 2014.  Unfortunately, we again have had heartbreaking losses of loved ones to Niemann-Pick Disease whom we all hold so close to our hearts.  Despite these soul crushing losses, the NPD community has made considerable progress in research and advancement towards therapies with the start of patient clinical trials for both Niemann-Pick type C and ASMD (NPD Type B).  There have also been many personal triumphs shared within the community and the foundation continually to strives towards offering and building upon our stellar family support programs and continued financial commitments towards research.

 

We have been fortunate to be a part of your lives throughout the year and are looking forward to the HOPE which 2015 will bring.

Have a warm and love filled New Years and we'll see you in 2015!

[Jan 1st, 2015 ~ blg]


Newsline postings from 2014


“The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the Canadian Chapter of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the CCNNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.”