An observational study in Niemann-Pick Disease, Type C, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to participants aged 1 Day to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-28.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.
Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide clinical spectrum and a variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression.
There is no effective treatment for NPC and it is a lethal disorder. A major impediment to the testing of therapeutic interventions is the lack of well-defined outcome measures. The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial.
Patients of any age with Niemann-Pick type C
Affected Subjects
The following individuals may be enrolled as in this study:
EXCLUSION CRITERIA:
Individuals will not be enrolled in this study if:
Unaffected Subjects
Individuals may be enrolled for data and biospecimen collection if:
Individuals will not be enrolled for biospecimen collection if:
They have a contraindication to the method of specimen collection
Volunteers may be of varying age, with no contraindication to collection of biospecimen.
Participants may range from neurologically asymptomatic to severe and may have liver disease or unrelated comorbidities, but must be stable enough to safely travel and tolerate medical evaluations.
Plasma Oxysterols
Oxysterols such as 24S-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol are derived from cholesterol and play a role in cholesterol homeostasis. No data is available on endogenous oxysterol levels in NPC patients. We plan to measure oxysterol levels in both serum and CSF and correlate these levels with disease status and progression.
Time frame: Ad Hoc
Clinical & Biochemical Markers
Identify a clinical and/or biochemical marker that can be used as a therapeutic outcome measure for NPC.
Time frame: Ad Hoc
Define Rate of Progression
Define rate of progression of biochemical marker abnormalities in \<TAB\>NPC patients for future therapeutic indication.
Time frame: Ad Hoc
Plan to share: No — Data from this study will be coded and shared in aggregate.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)