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Director's Message

Jan. 7, 2015: A New Year, a New Milestone for NCATS and Rare Disease Patients

Christopher P. Austin, M.D.

For people living with a rare disease called a lysosomal storage disorder, a tiny mistake in their DNA leads to big problems on the cellular level. Fatty materials called lipids build up in their cells and tissues, and those deposits can damage the brain, nerves, liver and other organs.

Lysosomal storage disorders primarily affect children, who need daily help from parents and other caregivers to survive. Most of the 50 or so diseases in this group have no treatment, in part because they are so rare. It can take well over a decade and billions of dollars to develop a new drug — a tough commitment for a pharmaceutical company to make for a treatment that ultimately will reach only a few people per year.

A key NCATS focus is finding new ways to understand and develop therapeutics for rare diseases. In an important demonstration of the effectiveness of the NCATS approach, new hope is on the horizon for young people living with the lysosomal storage disorder Niemann-Pick type C1 (NPC). NPC causes lipids to build up, mainly in brain cells, leading to impaired movement, seizures and dementia; patients usually die in their teenage years. Based on the collaborative work of a team including NCATS and other NIH researchers, patient advocacy groups, academic scientists, and a biotechnology company, a promising new treatment for NPC will continue to advance through clinical testing.

The potential treatment is a drug called cyclodextrin, developed by a multi-institutional collaborative team catalyzed by NCATS' Therapeutics for Rare and Neglected Diseases program. In collaboration with their partners, NCATS researchers "de-risked" cyclodextrin by developing the drug to the point where private industry — in this case, Vtesse, Inc. — will support further clinical development.

This successful project illustrates several NCATS themes I have touched on in previous Director’s Messages. First, that translation is a team sport: More than 20 researchers from 10 different disciplines and 9 different organizations took part in cyclodextrin's development:

  • NCATS brought expertise in pre-clinical drug development;
  • Physician-researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development brought expertise in NPC biology and clinical care, as did NIH scientists from the Clinical Center, National Human Genome Research Institute, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, and National Institute on Deafness and Other Communication Disorders; and
  • Collaborators from academia and industry, including Washington University in St. Louis, Albert Einstein College of Medicine, the University of Pennsylvania and Janssen Research & Development, LLC, contributed expertise in genetics, biochemistry, animal models and cyclodextrin pharmacology.

The second theme illustrated by the NPC project is the effectiveness of patient involvement in translational research: At every step, multiple patient organizations played essential roles on the team, including funding some of the research. These groups included the Addi and Cassi Fund, Ara Parseghian Medical Research Foundation, Dana’s Angels Research Trust, Hide & Seek Foundation for Lysosomal Disease Research, International Niemann-Pick Disease Alliance, John Paul II Medical Research Institute, National Niemann-Pick Disease Foundation, Niemann-Pick Disease Group (UK), and Support of Accelerated Research for Niemann-Pick Type C.

The third theme demonstrates NCATS' commitment to searching for commonalities among diseases, which can help investigators develop therapeutics for more than one disease at a time. NCATS scientists have found that both cyclodextrin and delta-tocopherol — a form of vitamin E — show promise as treatments for NPC as well as other lysosomal storage disorders. The Vtesse collaboration will help NCATS and its partners pursue both of these promising drugs.

With this wonderful news to kick off 2015, I look forward to sharing more exciting NCATS developments throughout the year. Stay tuned!

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences

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