Niemann-Pick Disease, type C1 (NPC1) is a neurodegenerative disorder due to a defect in intracellular lipid and cholesterol transport. As part of a Bench-to-Bedside initiative, we initiated a clinical protocol focused on identifying and characterizing biomarkers that could be used in a subsequent therapeutic trial. Funding to support a research nurse was provided by both the Ara Parseghian Medical Research Foundation and Danas Angels Research Trust. This protocol was initiated in August 2006, and to date we have enrolled seventyfive NPC patients. This is the largest cohorts of actively followed patients in this country. While most of the patients are children, the patients range in age from infants to adults. This protocol involves neurological, hearing, ophthalmological, psychiatric and medical evaluations. Blood, urine, and cerebral spinal fluid are being collected for biomarker analysis. Evaluations include magnetic resonance imaging combined with spectroscopy and auditory brainstem responses. We plan to continue to enroll new patients and follow this group over time. This initial observational study was instrumental in laying the foundation for a therapeutic trial of N-acetyl cystein that was initiated in September 2009. This trial was a placebo-controlled, cross-over trial that enrolled 35 NPC patients. This trial was completed in August 2010. In early 2013 we initiate a phase I trial of hydroxypropyl-beta-cyclodextran administered directly to the central nervous system in collaboration with the Therapuetics and Rare Disease Section of NCATS and multiple extramural investigators. Work is ongoing in aniticpation of organizing a multicenter clinical efficacy trial.
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