Niemann-Pick Disease, type C (NPC) 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 twentysix 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 4 years to 52 years. 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. Our goal is to use this observational study to lay the foundation for a future therapeutic trial.
| Speak, Anneliese O; Platt, Nicholas; Salio, Mariolina et al. (2012) Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. Eur J Immunol 42:1886-92 |
