Study of Biochemical Markers and Clinical Features in Niemann-Pick Disease, Type C Across All Ages

What this Trial Is About

Researchers are studying Niemann-Pick Disease, Type C NPC, a rare genetic disorder that causes progressive loss of nervous system function. This observational study aims to identify clinical and biochemical markers that could measure response to treatment and to define how these markers change over time in people with NPC. The goal is to support future clinical trials by providing important baseline and progression data for this disease, which currently has no effective treatment and affects individuals of all ages. Participants include patients of any age diagnosed with NPC, as well as healthy volunteers and known carriers. Every six months, participants undergo a 4- to 5-day admission at the NIH Clinical Center where various tests are performed. These tests include medical and neurological evaluations, lumbar puncture to collect cerebrospinal fluid, eye exams with eye movement studies, hearing tests, electroretinography to assess retinal function, magnetic resonance imaging MRI of the brain, psychometric questionnaires, and pregnancy tests for females over 10 years old. Throughout the study, researchers collect blood, urine, and cerebrospinal fluid samples to analyze biochemical markers and monitor disease progression. Imaging and neuropsychometric assessments help evaluate nervous system function. Photographs may be taken for educational and scientific purposes with consent. The study focuses on measuring plasma oxysterols and other clinical and biochemical markers to understand NPC progression. Participants are evaluated regularly to gather comprehensive data over time, supporting future treatment research.

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C