Update from Genzyme on ASMD Clinical Trials

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 an update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.

To read the update from Genzyme, visit the NNPDF's NewsLine or Enzyme Replacement Therapy Type B page.  To learn more about Niemann-Pick Disease of all types, visit http://www.nnpdf.org/.

NIH Clinical Trials and You

New Web Site Launched

The NIH announced the launch of a new Web site titled NIH Clinical Research Trials and You, geared for those considering participating in a clinical trial.

According to the press release announcing the new site, "Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate."

This new Web site aims to help potential participants learn about clinical trials and make an informed decision about whether they should take part. The site includes sections on "The Basics," "Volunteer Stories," "Researcher Stories," "Finding a Trial." Also, "For Health Care Providers," "Educational Resources," a glossary of terms, and much more.

Visit the NNPDF's Clinical Trials and Research Studies page for a link to the new NIH site and to learn more.

Latest Update on Planning for NIH Cyclodextrin Clinical Trial

The NIH/TRND NPC team met again with representatives of the FDA on Tuesday, December 13, to discuss plans for the upcoming clinical trial of cyclodextrin, and we are pleased to be able to share the update on the process.

NNPDF members can be assured the foundation will continue to keep families up-to-date on information about plans for this and all clinical trial as details become available. Updates will be posted to the NewsLine page, as well as to the Facebook page and the listserv groups.

For the update on the December 13 meeting, and more information about TRND (Therapies for Rare and Neglected Diseases program) and the six pilot projects selected (including NPC), visit the NNPDF Web site.

Niemann-Pick Research Updates - Cyclodextrin Trial and Postdoc Fellowships

We have received an update on the planning for a clinical trial with cyclodextrin for patients with Niemann-Pick Disease Type C (NPC).

Please visit the NNPDF's Cyclodextrin Trial page for a link to the complete update.

A photo of members of the NPC team at NIH is above.

In other research news, progress reports have been received from the postdoctoral fellows sponsored by the NNPDF. Visit the NNPDF's Fellowships page for links to the updates.

NPC Conference Call/Webinar with NIH on Monday, May 2

On Monday, May 2, 2011, the NNPDF will host a conference call/Webinar (online meeting) with key constituents and researchers, for all interested parties in the Niemann-Pick Disease Type C (NPC) community to learn more about the work being done at the NIH. Parents and extended family members, clinicians, researchers, caregivers, educators, and anyone with an interest in NPC is invited to participate.

Agenda topics for the conference call/Webinar are expected to include: NPC Observational Study at the NIH; development of NPC biomarkers; the NAC trial; use of a blood test for NPC diagnosis; and the current effort at TRND/NIH toward developing plans for a cyclodextrin trial at NIH. Presenters/experts we expect will participate include: Dr. Forbes “Denny” Porter, Dr. Daniel Ory, Dr. Marc Patterson, and Dr. Christopher Austin.

This meeting will begin at 4:00 pm Central Time (5:00 pm Eastern, 2:00 pm Pacific). International participants are invited, as well.

The meeting will be held using GlobalMeet’s “PGiMeet” interface. Participants will need access to a telephone for the audio portion of the call, as well as a computer to log in to a Web page to see any documents and graphics. Therefore, Internet access as well as access to a telephone will be required for full participation. (Those without access to a computer may participate in the audio portion only by telephone.)

Visit the NNPDF Web site for instructions on how to join the call/Webinar.

NIH to Develop Clinical Trial Utilizing Cyclodextrin

Informational Conference Call to be Scheduled

The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients.

The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Porter, a Senior Investigator at the NIH, and Dr. Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

In early May, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial.

As a date and details for the conference call are confirmed, the NNPDF will update and inform our NPC family membership with the call-in information, agenda outlines and topics of discussion. We anticipate that after the presentation, the conference call format will allow participants to submit questions to the speakers/researchers.

Further updates on the clinical trial will be presented at the NNPDF Family Support and Medical Conference in Norfolk, Virginia, July 28th - 31st. Dr. Porter and Dr. Ory will answer questions pertaining to the clinical trial and will report up-to-date information about the trial at the conference.

For more information about Niemann-Pick Disease and the National Niemann-Pick Disease Foundation, visit www.nnpdf.org.