Links and Other Resources
Hospital for Sick Children (SickKids Hospital) (Toronto, Ontario)
Please visit
this page
for contact information for Dr. Julian Raiman and Nurse Margaret Mackrell, both at the Division of Clinical and Metabolic Genetics, SickKids Hospital in Toronto.
[Dec 23, 2010 mem]
Research Participation and Clinical Trials
Clinical Trials
- Type B Enzyme Replacement Therapy
- Zavesca (Type C)
- NIH Natural History Study/Evaluation of Biomarkers and Clinical Evaluation of Niemann-Pick Disease, Type C
- Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
NPD Type C Family Survey conducted by graduate nursing student Karen Quandt
- Survey information and contact data ~ May 30, 2008
- Survey results and recap information ~ August 2008
Donation of Biological Samples to Assist with Research
Many families ask what they can do to help move research forward more quickly. One, of course, is to raise funds – research is expensive and every little bit helps! Another important way to help, however, and one that only the patients and families can do, is to donate biological samples for use in the research studies. This might include blood or skin cell samples taken at the time of diagnosis or other medical procedures, or blood, skin cell and tissue samples taken at the time of a surgery or at time of death.
The National Niemann-Pick Disease Foundation has worked with several programs and organizations where donations will be accepted, depending upon which type of NPD affects the donor. Please select one of the following links to learn more about how to arrange a donation and review the documents that will need to be completed to allow for sample collection.
Thank you for considering this most generous of donations!
Niemann-Pick Disease, Types A and B/Acid Sphingomyelinase Deficiency
1.
Coriell Institute for Medical Research
2.
The Laboratory of Dr. Edward Schuchman at Mt. Sinai School of Medicine
Niemann-Pick Disease, Type C
1.
Coriell Institute for Medical Research
2.
University of Maryland Brain and Tissue Bank for Developmental Disorders
Stem Cell Information from the International Society for Stem Cell Research
There has been much recent discussion among members of the NNPDF about stem cell therapies for lysosomal storage disease. While this should not be seen as an endorsement of this approach to disease management at this time, it is important that we provide our members with unbiased information about developing technologies. The following link provides access to both basic and more in-depth information about this field of investigation:
International Society for Stem Cell Research
Resources for NPD Families
- Family Voices
- CaringBridge
-
Ducks for Bucks
--
If you are a family who has a child
with NPD, you qualify for help from Ducks for Bucks. Your need may
be as simple as travel expenses for out-of-town doctor visits, to equipment
and medical needs for the care of your NPD child. Whatever it is,
Ducks for Bucks will do its best to help through the generosity of donors.
Contact
Lisa Chavez at
[email protected]
to
discuss what help you are in need of and how Ducks for Bucks might be
able to help.
Ducks for Bucks Application Letter Ducks for Bucks Request Application
Research Centers - University of New Jersey Medical School, Ethnic Database of Jewish Diseases
- International Center for Types A & B at Mount Sinai School of Medicine
- Laboratory of Dr. Laura Liscum - Niemann-Pick Pages
- UCSF/Stanford Univ. Lysosomal Disease Center
- Mayo Clinic
-
Richard
Pagano Lab (Mayo)
National Institutes of Health (NIH) - Search for clinical trials by disease or disorder
- Background information on clinical trials
-
NIH News
U.S. Department of Health and Human Services -
Healthfinder.gov
NIH National Institute of Neurological Disorders and Stroke (NINDS) - NINDS Home Page
-
NINDS
Grants - Applications and Programs
NIH Office of Rare Diseases - Home Page
- Information about clinical trials
-
Resources
for Research on Rare Diseases
National Library of Medicine - Home Page
- Niemann-Pick Types A and B (OMIM database)
-
Niemann-Pick
Type C (OMIM database)
Organizations addressing other lysosomal storage diseases - National Tay-Sachs and Allied Diseases Association
- National Gaucher Foundation
- The Hide & Seek Foundation for Lysosomal Disease Research
- International Advocate for Glycoprotein Storage Diseases
-
Lysosomal Disease Network
Rare Disease Organizations -
National Organization for Rare Disorders (NORD)
NORD's Patient Assistance Programs
NORD's Patient Assistance Programs "assist uninsured or under-insured individuals in securing life-saving or life-sustaining medications." While no progam exists at this time to support use of Zavesca, the NNPDF is planning a collaborative effort to establish such a program. - Eurordis - European Organisation for Rare Diseases
-
Orphanet - rare diseases and orphan drugs
Other organizations that address Niemann-Pick Disease:
(see also our
International Links and Information
page)
- Australian NPC Disease Foundation, Inc. (Australia)
- Vaincre Les Maladies Lysosomales (France)
- Niemann-Pick Selbsthilfegruppe (Germany)
- Fundacion Niemann-Pick de Espana (Spain)
-
National Niemann-Pick Disease Foundation
(U.S.)
- Niemann-Pick Disease Group (UK)
- Associazione Italiana Niemann Pick (Italy)
- Asociason Niemann Pick de Argentina (Argentina)
- Volwassenen Kinderen en Stofwisselingsziekten (Holland)
- Dana's Angels Research Trust (DART) (United States)
- Ara Parseghian Medical Research Foundation (United States)
-
Stowarzyszenie Charych na NPC i choroby pokrewne (Poland)
(Association of Patients Affected by NPC and Related Diseases)
Ul. Malikow 74
25-639 Kielce
Poland
Jerzy Szydlowski - Tel 602-622-705 - [email protected]
(Jerzy does not speak English but can get messages translated) - Other resources and links addressing Niemann-Pick Disease
- Organizations addressing lysosome storage diseases
[July 2, 2010 mem]