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Enzyme Replacement Therapy – Type B

Genzyme_000_000


Hello NNPDF Families and Friends,

In July, the NNPDF announced 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.

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.  This is what they had to say about their experience:

It was a simple process to do the interview. I was able to open up and discuss anything dealing with NPD. If I didn’t want to discuss it, no problem I could tell them I wasn’t comfortable. If I know that it can help someone else later down the road, it made it all worthwhile.

I was happy to participate, afterwards it gave me a great feeling to be able to share my story and tell just how important it is to get the word out about NPD. It also made me feel that even though we are a small piece of the big picture we still matter and for that we will persevere!

I feel that the interview was a good thing to have. It let us talk about what it’s like having Niemann- Pick. It was helpful having them ask us questions. It made me think of everything that goes with having it.

If you have not participated in the “Qualitative Research Phase” titled:  Patient Reported Outcome (PRO) sponsored by Genzyme you can still do so!  Please use the contact information below:

  • US/Canada toll free number:  1-800-257-3157
  • UK toll free number: 0800-088-5390
  • Evidera research team at the following e-mail address:  ASMDPro@evidera.com
  • Acid Sphingomyelinase Deficiency (ASMD)/ Niemann-Pick Disease Type B (NPD B) Patient-Reported Outcome (PRO) Development
  • Qualitative Research Phase
  • Patient Interview Study Information

Dateline:  Wednesday, July 22nd, 2015

ABOUT PRO
Patient-Reported-Outcome (PRO) instruments are measures self-reported by patients, about disease symptoms and impact, as well as impact of treatment. When evaluating disease management, quality of care and effectiveness of new treatments, PROs are very important in understanding what is important and meaningful from patients’ perspectives, and how health care interventions can be used to improve patients’ health and health-related quality of life. PROs are increasingly being incorporated into clinical programs, medical practice and in observational research, to evaluate and monitor the impact of medical treatments and health interventions and thus deliver care that is most important and valuable to patients.

AIM OF PRO INITIATIVE
In the light of its commitment to patient-centricity and with the aim to continuously support the patients with Acid Sphingomyelinase Deficiency (ASMD), Genzyme a Sanofi Company has launched an initiative to develop a disease-specific ASMD/ Niemann-Pick Disease Type B (NPD B) PRO instrument. Input from the patient community is a central part of PRO development. In addition to clinical expert interviews and evidence reviews, this research initiative involves also in-depth interviews with patients with ASMD and/or their parents/caregivers. The objective of interviews is to hear patients’ and caregivers’ opinion and perspectives, about the experience with symptoms of ASMD and about the impacts and burden that the disease has on their lives.

VALUE OF NEW PRO MEASURE
The newly developed PRO assessment tool will be available for use widely in various contexts and settings, including clinical research and medical practices. It will provide a comprehensive and standard tool to health care providers to measure severity, progression and overall burden of disease in patients with ASMD, as well as allow assessing and improving quality and effectiveness of care and interventions in a wider sense. This new PRO measure can also be used by researchers and other parties to understand disease impact, severity and progression of disease, as well as the value of treatments and interventions.

PATIENT INTERVIEWS
Patient input is an essential component of this initiative. Interviews will involve a one-hour discussion by an experienced scientist interviewer with patients and/or parents/caregivers.  Participants will be asked questions about disease symptoms, disease impact and general questions about living with ASMD. Interviews will take place via telephone or face-to-face at a location that is convenient for participants. Participation in the interviews is absolutely voluntary and patients and/or parents/caregivers may withdraw their participation at any time.

WHO CAN PARTICIPATE
This research includes adults with ASMD, children older than 7 years of age, as well as parents/caregivers of children with ASMD/NPD B. Your participation in the interviews for PRO measure development study does not prevent you from, or provide preference for, participating in any current or future clinical studies.

Click here to read the full press release

[Oct 22nd, 2015 ~ blg]


Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD)  Development Efforts

US Investigational Site Now Open for Recruitment
August 6th, 2015

ALERT: United States NPD Type B Families & Friends

The NNPDF central office noted today that the first investigational site for Genzyme’s Acid Sphingomyelinase Deficiency (ASMD) Pediatric Trial has been updated and is now actively recruiting pediatric patients at the approved clinical trial center in New York, NY.

Families should follow enrollment criteria as provided on the www.clinicaltrials.gov page. To view these criteria, location details and for additional contact information please visit www.clinicaltrials.gov and refer to study reference number: NCT02292654

The title of the pediatric Phase 1/2 trial is listed as: Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency.

The ERT pediatric clinical trial site for the United States has been established at Mount Sinai Hospital in New York under the direction of Dr. Melissa Wasserstein and will begin recruiting for pediatric patients diagnosed with ASMD (NPD Type B) within the age ranges listed below:

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Sanofi provided in the www.clinicaltrials.gov clinical trial information page.

Click here to read the letter recently sent out to families from the NNPDF Offices regarding recent Genzyme updates.

[Aug 6th, 2015 ~ blg]


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.

[Jul 22nd, 2015 ~ blg]


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

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

[Jun 25th, 2015 ~ blg]


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

Dear NNPDF Families and Friends,

The NNPDF Central Offices 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 this designation and only the second for all of Sanofi!  In addition, the NNPDF has also been advised that the participation of the foundations 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 was 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, 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

Olipudase alfa is being developed by Genzyme to potentially address the fundamental defect underlying the disease.

Supplementing the defective or deficient native enzyme with olipudase alfa allows for the breakdown of sphingomyelin, whose accumulation is responsible for the clinical manifestation of ASMD.

The Breakthrough Therapy designation is supported by data from a completed Phase 1b study of olipudase alfa. Findings in five adult patients with nonneuronopathic ASMD were presented at the Lysosomal Disease Network’s WORLD Symposium in February 2015. The data presented on the repeat-dose safety, pharmacodynamics, and exploratory efficacy of olipudase alfa support its continued development for the investigational use in nonneurological manifestations of ASMD.

The company has started enrollment of a Phase 1/2 pediatric study and is preparing for enrollment of a Phase 2/3 adult study in the second half of 2015. For more information please visit: http://clinicaltrials.gov.

For the complete press release from Genzyme click here

[Jun 4th, 2015 ~ blg]


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.

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]


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).

Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of continuing efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

We are actively preparing for a Phase 1/2 multi-center, open-label clinical trial in pediatric patients to evaluate the safety and tolerability of recombinant human acid sphingomyelinase (rhASM) when administered once every two weeks for 52 weeks. The trial is planned to enroll twelve pediatric patients up to 18 years of age with Niemann Pick Type B. Each participant in the trial is expected to receive rhASM once every two weeks, beginning at a low dose (0.03 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. No sites have been activated yet.

  • 12 patients are expected to be enrolled in the trial
  • It is expected that 3 patients will be enrolled per site. This is to help ensure that we have adequate international participation.
  • There are 4 planned global sites.  All sites will be added to the clinicaltrials.gov website as they receive the necessary approvals.
  • Any questions about participation in this trial can be directed to the individual’s treating physician

For additional information about this clinical trial, please visit www.ClinicalTrials.gov and refer to study reference number: NCT02292654

This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community and the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!

[Apr 24th, 2015 ~ blg]


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!

Kalia & Jack

Kalia & Jack

[Feb 27th, 2015 ~ blg]


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

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.

[Feb 12th, 2015 ~ blg]


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

Dear NNPDF Families and Friends,

The NNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released an official announcement with details of the pediatric patient Phase 1 / 2 clinical trial and NEWLY released information about the adult Phase 2 / 3 of recombinant human acid sphingomyelinase (rhASM).

The NNPDF is pleased to provide you with the following update pertaining to the adult Phase 2 /3 clinical trial:

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

Genzyme, a Sanofi company, is currently preparing a Phase 1/2 multi-center, open-label clinical trial in pediatric patients and a Phase 2/3 clinical trial in adult patients with Niemann Pick Type B.  More information about these clinical trials can be found at www.ClinicalTrials.gov .  Patients interested in these trials should discuss any questions they may have with their treating physician.

Genzyme remains committed to the Niemann-Pick community and extends its sincere gratitude to the patients and clinical sites that are participating. We also thank the entire Niemann-Pick patient community for its ongoing support.

You may find NEWLY posted information and details associated with the adult Phase 2 / 3 clinical trial at: www.clinicaltrials.gov by entering the Clinical Trials ID #: NCT02004691 in the search box at the top of the home page via the web link noted above.

The title of the adult Phase 2 / 3 trial is listed as: Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency.

Please Note:

  • The study is NOT yet open for participant recruitement.
  • Inclusion / Exclusion criteria is provided
  • 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.

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Sanofi provided in the www.clinicaltrials.gov clinical trial information page.

This is certainly an exciting time for our Niemann-Pick Disease Type B (ASMD) adult patients and our entire Niemann-Pick Disease Types A & B (ASMD) community overall.

For the latest information on the Sanofi pediatric Phase 1 / 2 clinical trial, released on December 9th, 2014: Click Here or search clinicaltrials.gov for clinical trial ID #: NCT02292654

[Jan 28th, 2015 ~ blg]


Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts Pediatric & Adult Trials
December 9th, 2014

The NNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released an official press announcement with details of the pediatric Phase 1 / 2 clinical trial & the adult Phase 2/3 of recombinant human acid sphingomyelinase (rhASM).

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
December 9th, 2014

Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of continuing efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

We are actively preparing for a Phase 1/2 multi-center, open-label clinical trial in pediatric patients to evaluate the safety and tolerability of recombinant human acid sphingomyelinase (rhASM) when administered once every two weeks for 52 weeks. The trial is planned to enroll twelve pediatric patients up to 18 years of age with Niemann Pick Type B. Each participant in the trial is expected to receive rhASM once every two weeks, beginning at a low dose (0.03 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg. No sites have been activated yet.

For more information about this clinical trial, please visit www.ClinicalTrials.gov and refer to study reference number: NCT02292654

In addition to this Phase 1/2 pediatric trial, Genzyme also continues to prepare for a Phase 2/3 clinical trial in adult patients with Niemann Pick Type B to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks. We will provide another update when we have confirmed a start date for the Phase 2/3 clinical trial.

Genzyme remains committed to the Niemann-Pick community and will keep you updated as our development program continues. Genzyme extends its sincere gratitude to the patients and clinical sites that participated in the phase 1b clinical trial and are now enrolled in the open label study, 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.
Please discuss any questions you may have with your treating physician.

This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community and the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!

[Dec 9th, 2014 ~ blg]


Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
December 3rd, 2014

The NNPDF Central Offices have been notified that the Genzyme, a Sanofi Company, has posted an update to clinicaltrials.gov on the recently announced the details of the pediatric Phase 1 / 2 clinical trial of recombinant human acid sphingomyelinase (rhASM).

You may find information and details associated with this trial at:  clinicaltrials.gov and enter Clinical Trials ID #:  NCT02292654 in the search box.

The title of the trial is listed as:  Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency

The study is NOT yet open for participant recruitement.

The wider NPD patient advocacy support community is working hand-in-hand with representatives from Genzyme to post a further patient update with more details and information.  We will make this memo available as soon as it is received from Genzyme.

In the interim, if you have any questions ~ please feel free to contact the NNPDF Central Offices at:  1-877-287-3672 or e-mail:  nnpdf@nnpdf.org

This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community as the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!

Kind regards,
Nadine

[Dec 3rd, 2014 ~ blg]


Genzyme Clinical Trial Update
Safety and Tolerability of Within-Patient Dose Escalation
Presentation by: Dr. Melissa Wasserstein

During the 2014 Annual Meeting of the American Society of Human Genetics (ASHG), held  from October 18th-22nd in San Diego, California, Dr. Melissa  Wasserstein M.D.  was honored to give a presentation on the results of the safety and tolerability of the enzyme replacement therapy (ERT) 1b clinical trial being funded by Genzyme, a Sanofi Company.

The key information noted within the abstract was that:  “The dose escalation regimen was well tolerated, with all patients reaching the maximum dose of 3.0 mg/kg. No serious or severe adverse events or deaths were reported. Related AEs consisted predominantly of infusion-associated reactions, the majority of which were mild and resolved without sequalae. A positive response to treatment with rhASM was observed in liver sphingomyelin content and several exploratory efficacy parameters, including spleen and liver volumes, pulmonary function testing, lung imaging, lipid profile, and quality of life assessments.”

Click here to review the abstract from the presentation.

Further updates from the entirety of this research are planned to be presented at the 11th Annual WORLD (We’re Organizing Research on Lysosomal Disease) Symposium in Orlando, Florida ~ February 9th ~ 13th, 2015.

In addition, the NNPDF is pleased to advise that Dr. Wasserstein is also a two-year grant recipient of the NNPDF in support of her research study to describe the natural history of NPD type A and B. This research study is designed to collect serial data in patients with NPD. Patients will complete various medical study evaluations. See full lay summary on the NNPDF Funded Research Grants page.

[Nov 6th, 2014 ~ blg]


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 analysis 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 (help by tradece potter). 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]


Update from Genzyme on 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.

Click here for the Press Release

[Oct 10, 2013~blg]


Update from Genzyme on Acid Sphingomyelinase Deficiancy (ASMD) Development Efforts
August 2, 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).

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.

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 patient.advocacy@genzyme.com.

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) for Acid Sphingomyelinase Deficiency (ASMD)

Dateline:  November 15th, 2012 ~ The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the completion of the Phase I and the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.

This 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.

To that end, the Enxyme Replacement Therapy (ERT) team has made the following announcement available to the NNPDF Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.

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

[Nov. 21, 2012 nmh]


Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
November 15, 2012

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 preparing to initiate a Phase 1b clinical trial to evaluate the safety and tolerability of rhASM when administered once every two weeks. The trial is planned to enroll six adults with Niemann-Pick B disease at two study centers: Mt. Sinai School of Medicine in New York, NY 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. We expect to initiate the Phase 1b trial by early 2013, pending successful completion of regulatory and ethics review.

Genzyme also continues to make preparations for a Phase 2 clinical trial of rhASM to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.

In July we completed long-term follow-up visits for a natural history study of Niemann-Pick B patients that began in 2001. We extend our thanks and appreciation to the study participants, investigators, and staff in the US, France, Italy, Germany, and Brazil who made this study possible. Data generated from this study may yield important information about disease progression in the absence of treatment and may be supportive in a potential drug application filing in the future. We are in the process of reviewing these data and anticipate publishing study findings upon completion of data analyses.

We remain committed to the development of rhASM and appreciate the ongoing support of the global Niemann-Pick disease community. We will provide another update upon initiation of the Phase 1b clinical trial.

Genzyme
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com


Update on Clinical Trial of Enzyme Replacement Therapy (ERT) for Acid Sphingomyelinase Deficiency (ASMD)

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
margaret.mcgovern@stonybrook.edu

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: betsy.bogard@genzyme.com
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.