Join us in the Fight Against Niemann-Pick Type C Disease

• Home
• About Niemann-Pick Type C
• Research
• About Us
• Events
• Newsletters & Videos
• Contact Us
• Links

Update on FDA Approval of Cyclodextrin Clinical Trial

December 15, 2011

Dear families and friends of the NPC community,

The collaborative group planning a cyclodextrin clinical trial at the National Institutes of Health (NIH) for the treatment of Niemann-Pick type C (NPC) disease met with the Food and Drug Administration (FDA) on Tuesday, December 13, 2011 as a follow up to the recently held November pre-IND meeting.  On November 1, we met with the FDA Review Division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package.

Representatives from the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, participated in this meeting.

While the November meeting focused on the drug safety and toxicology data, the purpose of the December meeting was to discuss the proposed clinical trial design.  Overall, the feedback from FDA was very positive and their comments and guidance will assist us in the generation of an IND application that is agreeable to FDA, thus allowing us to move forward with the initial clinical trial as soon as possible.

Preclinical toxicology and safety studies in animals are ongoing, and additional studies will be initiated shortly.  These required nonclinical studies will guide the selection of drug doses for the initial trial and will provide essential safety information.   In the upcoming months, we will be evaluating these study results and will incorporate them into the  IND application and initial clinical protocol, which will then be submitted to FDA and the NIH Institutional Review Board (IRB).  Once we have agreement from FDA and approval from the NIH IRB, we can share the specific details of the initial clinical trial, such as patient inclusion/exclusion criteria.

We are very excited about the progress we have made thus far and are encouraged by our recent meetings with FDA.  We understand that the community is eager to start this initial trial as soon as possible and we do not have time to waste.  Following the meeting, we believe that FDA shares our sense of urgency and we are grateful that they are willing to work closely with us to get this important initial trial started.  As always, your support of NPC research is the final piece that will help us impact this disease.  Thank you for your enthusiasm, your patience, and especially for trusting that we are making every effort to help individuals and families affected by NPC.

The Therapeutics for Rare and Neglected Diseases Team

From the Heart of NP-C Researchers

For the many researchers who have dedicated their lives to solving the mystery of Niemann-Pick Type C disease and to finding a treatment and cure, NP-C is not simply an interesting scientific problem.

These caring and brilliant scientists, many of whom are parents themselves, feel a deep pain and sorrow each time they receive news that another young person afflicted with NP-C has passed away. Each has a dream to find the answer to NP-C which will lead to a treatment as quickly as possible.

The following are excerpts from a few of our researchers who have expressed their feelings in this regard:

Steven Walkley, DVM, Ph.D., Albert Einstein College of Medicine, NY-"I have been involved in the study of storage diseases, including NP-C, for many years and have had the privilege of getting to know a number of families with an affected child, in some cases more than one. As the father of two young children, I readily identify with these parents. Time and time again, the greatest impact for me has been to get to know the mothers of affected kids. What I have come to believe is that there is nothing in this world more powerful, or more courageous, or more enduring, than a mother's love."

David Marks, Ph.D., Mayo Clinic, MN-"As a parent, the connection I feel with the Parseghians and other affected NP-C families has touched me and brought me to tears many times. Receiving funds to work on NP-C, I bring back to the lab a commitment that our job is not just to study an interesting disease, but to make progress in a race against time with the goal of hopefully contributing to saving lives."

Robert Erickson, M.D., University of Arizona, AZ-"I have been a medical researcher for 44 years. Seven years ago when I met Cindy and Mike Parseghian and their children, I became emotionally involved with my research in a new way."

Steve Sturley, Ph.D., Columbia University, NY-"A day doesn't go by when I don't ask myself what more can be done to understand and cure this genetic disorder. When I look at what the Parseghians and the other affected families do each day, and as my own family builds, I just hope I would have the same courage and determination in the same situation."

Elina Ikonen, M.D., Ph.D., National Public Health Institute, Finland-"When I have taken the trip to Tucson to the APMRF annual NP-C Scientific Meeting, I have told my daughters, 'There are two little girls in Arizona that need my help." When Christa passed away, I told Satu and Sonja about that and they asked, 'Mom. Why didn't you help her after all?' I replied, 'I did my best but sometimes that is not enough. But that does not mean we should give up. We will just have to keep working and one day we will succeed.'"

Peter Pentchev, Ph.D., Retired, National Institutes of Health-"The parents of NP-C children take the lead in setting the example of how the scientific community should act. Their love, courage and devotion have certainly inspired many scientists to move beyond the arena of competitive research to establish a common meeting ground where the heart as well as the mind dictate their action."

Return to Research Section