Enzyme Replacement Therapy - Type B
Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
June 13th, 2014
Dear NNPDF Families and friends,
The NNPDF Central Offices received the following update from Genzyme (a Sanofi Company) in reference to the current Enzyme Replacement Therapy clinical 1b phase trial provided on June 13th, 2014:
" Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Genzyme completed a Phase 1b trial in Niemann-Pick disease Type B adult patients in January 2014. The Phase 1b trial evaluated the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM) when administered once every 2 weeks. Five adult patients with Niemann-Pick B disease were enrolled and completed the trial at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK. At this point in time, we are reviewing and preparing the final analyses of the Phase 1b trial. The results of the Phase 1b trial will allow us to develop and plan future studies and to have a discussion with regulators such as FDA and EMA concerning our next step in the process.
While Genzyme continues to evaluate the results of the Phase 1b trial and prepare for meetings with the regulatory authorities, Genzyme continues to make progress preparing for a Phase 2 trial to further evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 study will be a multi-center, international, 1-year placebo-controlled trial to investigate the safety and efficacy of rhASM in adults with Niemann-Pick disease Type B. Participant enrollment for the Phase 2 study will begin after the results of the Phase 1b clinical trial have been fully evaluated, we have had the opportunity to discuss the results with regulatory authorities, and the trial sites are activated.
Genzyme remains committed to the Niemann-Pick community and will keep you updated as our development program continues. "
The NNPDF will continue to keep you updated as we receive further updates pertaining to this important research and clinical work on behalf of our Niemann-Pick Disease type A and B (ASMD) community.
[June 16, 2014 ~ blg]
Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
February 13th, 2014
Genzyme, a Sanofi company, is pleased to update the Niemann-Pick Disease patient community on the progress of our efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Recently, Dr. Simon Jones, MbChB, presented interim tolerability and safety information from our Phase 1b clinical trial at the WORLD Symposium, held in San Diego, CA.
The title of the presentation was:
- An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD). (The abstract is listed under # 112.)
The Phase 1b clinical trial in Niemann-Pick Type B patients was initiated in May 2013 to evaluate the safety and tolerability of the investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM). This trial has now been completed. Five adult patients completed the trial conducted at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK.
An infused protein-based product, rhASM, was evaluated in this trial for the treatment of the non-neurological manifestations of ASMD. Each patient in the trial received rhASM once every two weeks, beginning at a low Investigational dose (0.1 mg/kg dose) that was gradually increased to the maximum study dose of 3 mg/kg.
The 16-week interim data that Dr. Jones presented demonstrated that all five patients were able to tolerate dose escalation to the maximum study dose of 3.0mg/kg and there were no serious or severe adverse events. The complete six month data are currently being analyzed.
In parallel to the full evaluation of the Phase 1b results, we continue to make progress preparing for a Phase 2 trial to further evaluate the safety and efficacy of different doses of rhASM. The Phase 2 study is planned to be a multi-center, international, one-year trial of the safety and efficacy of rhASM in adults with Niemann-Pick Disease Type B. We anticipate clinical trial sites in the US, UK, Germany, Italy, France, Chile, Brazil, and potentially also other countries. No sites have been activated yet, but the trial is expected to commence later in 2014.
We remain very committed to the development of rhASM and appreciate the ongoing support of the global Niemann-Pick Disease community as we move forward. Please discuss any questions you may have with your treating physician.
Sandra Cowie, NNPDF Board Research Chair, commented on her personal experience while attending the WORLD Symposium:
" I was pleased to be able to attend the WORLD meeting and hear Dr. Jones's presentation on the Phase 1B trial for ASMD Enzyme Replacement Therapy (ERT). It is great news that no serious or severe adverse events were encountered during the trial and I look forward to hearing the outcome of the data analysis referred to in the update from Genzyme, along with the anticipated phase 2 trial of ERT. My thanks to the teams at Mount Sinai in New York and St Mary's in Manchester for their work on the clinical trials and to the team at Genzyme for their ongoing efforts. My thanks, as well, to all of those who participated in the clinical trials. The NNPDF will continue to update the community regarding the progress of ERT and the clinical trials, along with other relevant research. "
"A Patients Perspective on ERT Therapy"
The NNPDF would also like to share with you a recent article published in the Niemann-Pick Disease Group (UK) Newsletter. It's a discussion with James Dyson (NPB) who participated in the Genzyme Phase 1b clinical trial at the United Kingdom clinical site.
Phase 1b trial with Genzyme Corporation in patients with Niemann-Pick B ~ A Patients Perspective
[Feb 20th, 2014 ~ blg]
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Acid Sphingomyelinase Deficiency (ASMD) Development Efforts October 28, 2013 |
Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
A Phase 1b clinical trial in Niemann-Pick Type B patients is ongoing to evaluate the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM). Five adult patients are enrolled in the trial at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK.
An infused protein-based product, rhASM, is being evaluated in this trial for the treatment of the non-neurological manifestations of ASMD. Each patient in the trial is receiving rhASM once every two weeks, beginning at a low dose (0.1 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. The trial will be completed in January, at which point the data will be reviewed and analyzed.
In addition to the ongoing Phase 1b clinical trial, we continue to make progress preparing for a Phase 2 trial to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 trial is planned to start in Q1 2014. It will be a multi-center, international, 1-year trial of the safety and efficacy of rhASM in 15 adults with Niemann-Pick disease Type B. We plan to open clinical trial sites in the US, UK, Germany, Italy, France, Chile, Brazil, and potentially other countries. No sites have been activated yet.
On October 16th, Genzyme recognized Niemann-Pick Awareness Month by hosting two internal meetings for employees. At a breakfast meeting at Genzyme’s research and development campus in Framingham, Massachusetts, employees heard three different stories of patients and their families living with Niemann Pick type B disease. Two of these stories were told through videos that patients made themselves and a third was told in-person by the mother and father of a little girl diagnosed with Niemann-Pick disease Type B earlier this year. Later that day employees at Genzyme’s corporate headquarters in Cambridge, MA attended a similar presentation over lunch.
During the two events, employees were presented with the need that exists around Niemann-Pick disease Type B and the hope that patients and families have for a better future.
[Oct 25th, 2013~blg]
Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts
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Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
Enrollment in a Phase 1b clinical trial to evaluate the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM) has been initiated and completed. An infused protein-based product, rhASM, is being evaluated in this trial for the treatment of the non-neurological manifestations of ASMD.
In total, five adults with Niemann-Pick disease Type B are enrolled in the trial at two study centers, Mt. Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK. Patients were enrolled from late May to early July, and each will be followed for 6 months.
Each participant in the trial is expected to receive rhASM once every two weeks, beginning at a low dose (0.1 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. The patients enrolled in this Phase Ib study will provide invaluable insights into the safety and tolerability of rhASM repeat-dosing.
In addition to our ongoing Phase 1b clinical trial, we continue to make progress preparing for a Phase 2 trial to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 trial is planned to start in Q1 2014. It will be a multi-center, international, 1-year trial of the safety and efficacy of rhASM in 15 adults with Niemann-Pick disease Type B. We plan to open clinical trial sites in the US, UK, Germany, Italy, France, Chile, Brazil, and potentially other countries. No sites have been activated yet.
We have also engaged a contract manufacturer, Gallus Biopharmaceuticals, in St. Louis, Missouri, to support development of Phase 3 manufacturing processes.
- Gallus Biopharmaceuticals Web Site
-
The Gallus Biopharmaceauticals Press Release
Genzyme extends its sincere gratitude to the patients and clinical sites who are participating in the Phase 1b clinical trial, whose dedication and commitment makes it possible to advance the understanding of this investigational therapy. We also thank the entire Niemann-Pick patient community for its ongoing support as we continue our efforts to develop a potential therapy for ASMD.
[August 8th, 2013 blg]
Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts |
Dateline: March 28th, 2013 ~
Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.
We initiated recruitment of a Phase 1b clinical trial to evaluate the safety and tolerability of rhASM when administered once every two weeks. The first patient began screening at Mt. Sinai School of Medicine in New York, NY in late March, 2013. The trial is planned to enroll six adults with Niemann-Pick B at two study centers, Mt. Sinai and St. Mary’s Hospital in Manchester, UK. Each participant in the trial is expected to receive rhASM once every two weeks for 6 months, beginning at a low dose (0.1 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. Upon completion of the 6-month trial, participants may have the option to continue receiving rhASM on a long-term basis under an extension protocol. Genzyme also continues to make plans for a Phase 2 trial to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year.
In addition to the progress in our clinical development program, we continue to work with the global Niemann-Pick patient community to better understand and support its needs. Highlights include:
- In November 2012, Genzyme hosted a Niemann-Pick B Patient Advisory Board Meeting attended by twelve patients and parents from across North America. The goal of the meeting was to better understand the diagnosis pathway and to gain insight into the effect that a Niemann-Pick B diagnosis has on individuals and families. During this one-and-a-half-day meeting, participants were able to meet and dialogue with Genzyme representatives from the medical, legal and senior management team. In May 2013, we look forward to hosting a Caregiver Advisory Board Meeting, which will include members of the Niemann-Pick B community to provide their caregiver perspective.
- At Genzyme’s Rare Diseases Global Strategy Meeting this year in Boston, Massachusetts, a total of 128 Genzyme senior employees gathered from across the globe and had the opportunity to hear a Niemann-Pick B patient share her journey living with Niemann-Pick B. Members of the senior management team were inspired by this story of strength and humor in facing the challenges of this disease and by a personal journey that underscores the importance of efforts to develop a therapy for Niemann-Pick B.
- On February 28, 2013, Genzyme employees gathered around the world in recognition of World Rare Disease day. On this special day, Genzyme announced the launch of the third annual Patient Advocacy Leadership Awards (PAL Awards), a global grant program supporting non-profit patient organizations that work on behalf of individuals living with lysosomal storage disorders (LSDs). Grants are awarded through a competitive process to organizations that seek funding for innovative programs and projects that improve disease awareness, patient care and support, and education. In 2012, we were pleased to include the NPDG-UK as one of the nine winners chosen by an external review committee to help fund a website development project, "Teenagers and Young Adults with Niemann-Pick Disease: Facing the Future Together.”
We remain committed to the development of rhASM and appreciate the ongoing support of the global Niemann-Pick disease community as we move forward. If you have any questions, please contact Genzyme’s Patient Advocacy team at [email protected] .
We have also learned that Genzyme and Mount Sainai are recruiting new patients for phase1b of the Enzyme replacement therapy. For more information: Click Here
[May 7th, 2013 blg]
Update on Clinical Trial of Enzyme Replacement Therapy (ERT)
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The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B. It seems there has been some confusion among members of the ASMD community; please note that we have contacted Genzyme and confirmed that the Phase 2 trial has not been cancelled and the Genzyme/Sanofi Company is committed to the ongoing support of our NPD Type A and B patients and families.
Genzyme has advised that they are still actively preparing for a Phase 2 clinical trial for enzyme replacement therapy in ASMD/NPD Type B. The trial is expected to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.
The program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with the following update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.
If you have any questions regarding this update ~ please feel free to contact the NNPDF Central Office at: 1-877-287-3672. The NNPDF will continue to bring you more information as it becomes available.
Kind regards,
Nadine
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
Genzyme, a Sanofi company, is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
We are actively preparing for a Phase 2 clinical trial of rhASM in Niemann-Pick B patients to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks. In preparation for the trial, we have sought feedback from the FDA, are evaluating potential study centers worldwide, and are assessing our short- and long-term manufacturing plans.
We are also beginning to schedule the long-term follow-up visits for the natural history study of Niemann-Pick B patients that began in 2001 in the US, France, Italy, Germany, and Brazil. These vists are expected to yield important information about disease progression in the absence of treatment and may be included in a potential drug application filing in the future.
Our entire organization, from the Genzyme rare disease team to our colleagues at Sanofi, is committed to the development of rhASM and to addressing the unmet medical need of patients with ASMD.
We appreciate the support of the global Niemann-Pick disease community and will provide another update as soon as we are able to confirm a start date for the Phase 2 clinical trial.
Genzyme
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com
[Apr 26, 2012 mem]
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
A note from Genzyme - January 2011:
Genzyme is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). After completing the Phase 1 clinical trial in 2009, we engaged regulatory authorities in discussion about plans for a Phase 2 clinical trial and conducted additional preclinical research in 2010. This regulatory dialogue is ongoing. We remain committed to the development of a therapy for ASMD and will keep the community informed once our regulatory discussions are complete and we can confirm a start date for the Phase 2 clinical trial for Niemann-Pick B patients.
We are pleased to note that an abstract from the Phase 1 clinical trial was selected for a podium presentation by Dr. Margaret McGovern at the 7th annual lysosomal disease network's WORLD conference, to be held in Las Vegas, February 16-18, 2011.
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com
[Jan 27, 2011 mem]
Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B
A new research article was recently published online in the American Journal of Medical Genetics titled "Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B."
Some of you will recall that Dr. Wendy Packmann and colleagues from the University of California, San Francisco, attended our Annual Family Conference held in 2005 in Manhattan Beach, California, where they did presentations about their work and interviewed some individuals and family members. Additional interviewing was done following the conference, and we are now seeing the fruits of those efforts.
The abstract/summary of the article is as follows:
Am J Med Genet A. 2009 Nov;149A(11):2430-6.
Psychosocial aspects of patients with Niemann-Pick disease, type B.
Henderson SL, Packman W, Packman S.
Department of Family and Community Medicine, University of California, Davis School of Medicine, Sacramento, California, USA.
Health-care providers have only begun to understand the medical aspects of Niemann-Pick disease type B (NPDB), a relatively rare disease. Even less information is known about the psychological effects of living with NPDB.
Patients with NPDB and their families face numerous psychological stressors including extensive medical testing, uncertainty of diagnosis, living and coping with a chronic illness, and grief and bereavement surrounding this progressively debilitating, and, ultimately, fatal disease. We used a qualitative case study approach to explore the human experiences of NPDB patients and families. To assess psychosocial adjustment, all participants were administered a semi-structured, qualitative interview, as well as quantitative measures.
Five major findings emerged: (1) limited physical activity, social isolation, and peer rejection were identified as significant stressors; (2) stressors had a specific impact during the age span of 10-16 years; (3) parents and adult patients expressed frustration regarding the lack of available information and treatment; (4) patients described close family relationships as a way of coping with illness; and (5) adult patients identified early medical experiences as having a considerable psychological impact.
The results of this investigation highlight and expand awareness of the psychological and social needs of NPDB patients and families. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families.
Copyright 2009 Wiley-Liss, Inc.
PMID: 19877061 [PubMed - in process]
Thank you to all who participated in the study, and congratulations to Dr. Packman and her colleagues for a job well done!
Cate Walsh Vockley
[Nov 16, 2009 mem]
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
Phase 2 Enrollment to begin in 2010
A note from Genzyme - October 2009:
We have completed analyses of data from the Phase 1 clinical trial of recombinant human acid sphingomyelinase (rhASM) as a potential treatment for ASMD (also known as Niemann-Pick Disease Types A and B). Key findings were summarized and presented by Dr. Margaret McGovern, the Principal Investigator, on August 31, 2009, in a poster at the International Congress of Inborn Errors of Metabolism in San Diego, California, USA. Dr. McGovern discusses the findings again in an oral presentation at the American Society of Human Genetics annual meeting in Honolulu, Hawaii, USA from October 20 to 24, 2009.
The trial describes the first experience with enzyme replacement therapy in adult patients with ASMD. Eleven patients were treated with single doses of rhASM ranging from 0.03 mg/kg up to 1 mg/kg administered intravenously. The trial design and data analyses were focused on evaluating the safety of rhASM over this range of doses.
Based on the trial findings, Genzyme plans to focus on a within-patient dose escalation design (which means that a patient will start at a lower dose and increase it over time) for Phase 2. The Phase 2 trial design is in development, with patient enrollment expected to begin in 2010.
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
Enzyme Replacement Therapy Clinical Trial Update (ASMD/NPD-Type B)
Conclusion of Phase 1
A note from Dr. Margaret McGovern regarding the conclusion of Phase I:
Dear Niemann-Pick Disease Families:
Dr. Wasserstein and I and the entire Niemann-Pick Disease team want to thank the patients who volunteered and made it possible to complete the Phase I study. The poster we presented at the International Congress for Inborn Errors of Metabolism is here for you to see. We also will be presenting these results at the American Society of Human Genetics Meeting in October.
The study was very important. It told us what the safest starting dose for the enzyme should be. It showed that there were some side effects of the drug that usually occurred between 24 and 48 hours after the infusion but that resolved quickly. We also learned what the important blood tests will be to monitor in future trials.
It is a very exciting first step in getting a drug approved for the treatment of Niemann-Pick Disease and we are very happy to share these results with you.
Sincerely,
Margaret M. McGovern, MD, PhD
Professor and Chair of Pediatrics
Stony Brook University School of Medicine
[email protected]
Poster presented at the International Congress for Inborn Errors of Metabolism
Read the abstract of the presentation
Message from Betsy Bogard of Genzyme: Completion of Phase 1 Clinical Trial
Genzyme is pleased to announce that its Phase 1 clinical trial of recombinant human acid sphingomyelinase (rhASM) as a potential treatment for Acid Sphingomyelinase Deficiency (ASMD, Niemann-Pick Disease Type B) was completed in April 2009. The main purpose of this trial was to evaluate the safety of different doses of rhASM in adults with ASMD. A total of eleven patients were treated with single doses of rhASM ranging from 0.03 mg/kg up to 1 mg/kg administered intravenously. The trial took place at Mt. Sinai Medical Center in New York City.
The results of this trial have given an indication for the best ways to administer the drug intravenously to patients and effectively monitor for potential side effects. Genzyme is completing the Phase 1 data analyses and preparing for a Phase 2 trial that is expected to begin in 2010 and will likely involve giving repeat doses of rhASM. Genzyme plans to disseminate key findings from the Phase 1 trial as they become available.
Completion of the Phase 1 trial marks an important, hard-earned, and long-awaited milestone for the Niemann-Pick B disease community. Our sincere appreciation goes to all the patients who participated in the trial and their families. Genzyme thanks Drs. McGovern and Wasserstein at Mt. Sinai for their leadership of the trial and Jessica Cristian and Erin Starrett for managing data collection activities.
Congratulations to the Niemann-Pick community on achieving this important milestone.
Betsy Bogard
Associate Director, Program Management
Genzyme Corporation
500 Kendall Street, Cambridge, MA 02142
e-mail:
[email protected]
www.genzyme.com
Refer to the clinical trial page for more
detailed information:
www.clinicaltrials.gov (study NCT00410566)
http://www.clinicaltrials.gov/ct/show/NCT00410566?order=2
[Sept 14, 2009 mem]
Enzyme Replacement
Therapy - Type B
Clinical Trial Update from Genzyme
Phase 1 Clinical Trial
The Phase 1 clinical trial of recombinant human acid sphingomyelinase (rhASM) as a potential treatment for ASM Deficiency (Niemann-Pick Disease Type B) is ongoing. Nine patients have completed the trial to date. A safety data review was recently completed and we are proceeding with the next planned infusion. Additional patients are being screened and scheduled for visits.
The trial was originally planned to include 15 total patients divided into five separate dose groups of three patients each, with each group receiving a successively higher dose of enzyme. Given the challenges of finding patients who meet the trial’s strict inclusion and exclusion criteria, in June Genzyme proposed a reduction in trial size from 15 to 12 patients. This proposal was submitted to and approved by the US Food and Drug Administration (FDA), the regulatory agency overseeing the trial. The third, fourth, and fifth dose groups now require a minimum of two patients each rather than three.
More patients are needed to complete this trial. Based on their medical history, potentially eligible individuals for the remaining two dose groups are being contacted by the trial staff. The trial is taking place at Mt. Sinai School of Medicine (MSSM) and is open to eligible individuals worldwide. Participation in the trial requires up to four visits to MSSM. Travel expenses and trial-related medical treatments are being paid for by Genzyme Corporation, which is sponsoring the trial. Anyone interested in participating may visit www.clinicaltrials.gov (study identifier NCT00410566) for more information.
Upon completion of enrollment in this Phase 1 trial, all data will be collected and analyzed. Findings from the Phase 1 trial will be used to help design a multi-national Phase 2 trial in which we expect to evaluate the effect of repeat dosing on various Niemann-Pick Disease Type B symptoms over time.
Appreciation goes to all the patients who have participated in the trial thus far, as well as to Drs. McGovern, Wasserstein, Schuchman, and Desnick at MSSM for their ongoing work on the trial.
Survey Study
Findings from the baseline analyses of the prospective, cross-sectional survey study of the natural history of Niemann-Pick Disease Type B were recently published in the journal Pediatrics .* These analyses were led by Dr. McGovern and documented the multisystem involvement and clinical variability of Niemann-Pick Disease Type B. Among other findings, the analyses showed a correlation between spleen volume and disease severity, suggesting that spleen volume may be a useful surrogate end point in treatment trials. Biomarkers such as chitotriosidase may also play a role in monitoring patient treatment responses.
* McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics . 2008 Aug;122(2):e341-9. Epub 2008 Jul 14.
[Oct 29, 2008]
Clinical Trial Update from Genzyme
The Phase 1 clinical study of recombinant human acid aphingomyelinase (rhASM) for treating ASM Deficiency (Niemann-Pic Disease, Type B) is currently ongoing. Eight patients have completed the study to date, with additional patients being screened and scheduled for treatment and assessment visits.
The main purpose of this Phase 1 study is to evaluate the safety of rhASM, an investigational enzyme replacement therapy, given as a single dose to adults with ASM deficiency. During the study, known as a sequential dose escalation study, successive groupd of patients are receiving increasingly higher doses of enzyme. The study includes five total dose groups; three have completed the study and the fourth is in progress. Administration of rhASM has been well-tolerated in all patients to date.
More patients are needed to complete the trial, which is taking place at Mt. Sinai School of Medicine (MSSM) in New York City. Study staff are contacting patients who may be eligible for the remaining two cohorts. The study is open to patients worldwide who meet the study's medical requirements. Participation in the trial requires up to four visits to MSSM. Travel expenses and study-related medical treatments are being paid for by Genzyme Corporation, which is sponsoring the study. Anyone interested in participating may visit www.clinicaltrials.gov (study identifier NCT00410566) for more information.
Enrollment in the Phase 1 study is expected to be completed this year, with data collection and analysis to follow in 2009. Appreciation goes to all the patients who have participated in the study thus far, as well as to Drs. McGovern, Wasserstein, Schuchman, and Desnick at MSSM for their ongoing work on the program.
Plans for a multi-national Phase 2 study are currently in development. Findings from the Phase 1 study will be used to help design the Phase 2 trial. We anticipate that the Phase 2 study will be the first opportunity (of at least two generally required for regulatory approval) to evaluate the effect of repeat dosing on various disease symptoms over several months.
[Sept 5, 2008]
Genzyme Corporation has announced the open enrollment of two IRB-approved clinical research studies for individuals with Niemann-Pick disease caused by acid sphingomyelinase deficiency (Types A and B).
The first study is a Phase 1 clinical study of recombinant human acid sphingomyelinase administered as a single dose to adults (18-65 years old) with Niemann-Pick disease Type B. This enzyme replacement study will evaluate a range of sequential doses among approximately 15 patients at one center in the U.S. The primary objective of the study is safety, and the secondary objectives are pharmacokinetics and efficacy. Following a 3-day screening visit, eligible patients will make 3 additional visits to the study site over a 28-day period. One of the study visits involves a 4-day inpatient hospitalization during which the treatment will be administered.
For further information, please contact Genzyme Medical Information at 800-745-4447, option 2 and mention SPHINGO00605. The study is also posted on www.clinicaltrials.gov.
The second study is a non-treatment, chart review study to characterize the natural history of Niemann-Pick disease Types A and B. Findings from this study will help to define the natural progression of the disease and will assist in the selection of endpoints for future clinical treatment studies. Both living and non-living patients with Niemann-Pick disease Types A and B from the US and Canada are eligible for enrollment. Following the informed consent of patients or the next of kin, medical records will be requested and sent to one of the three study sites. De-identified information related to patient demographics, disease history, and health care utilization will be entered into a secure database maintained by Abt Associates, Lexington, MA. Enrollment of new patients will be completed in mid-2007.
For further information, please contact: Genzyme Medical Information at 800-745-4447, option 2 and mention SPHINGO00302.
You can also contact NNPDF for more information about these and other studies.
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