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 2026-11-12.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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Among 23 studies in Niemann-Pick Disease, Type C with a site in United States — 6 open to participants now, 8 under way, 4 of them phase 3. Niemann-Pick Disease, Type C · United States.
Among the 23 studies in Niemann-Pick Disease, Type C with a site in United States, this one is the only one that started in 2006, is one of 5 observational ones, and was the 1st registered.
37 studies on the registry are indexed under Niemann-Pick Disease, Type C; 8 are open to participants now.
Browse Niemann-Pick Disease, Type C studies →6 of the 23 studies in Niemann-Pick Disease, Type C with a site in United States are open now. Recruiting first, the newest first:
Azafaros B.V. · Sites in United States, Argentina, Australia and 14 more countries
Ages 4+
Azafaros B.V. · Sites in United States, Argentina, Australia and 12 more countries
Ages 4+
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 3 mo+
IntraBio Inc · Sites in United States, Australia, Czechia and 5 more countries
Ages 4+
Albert Einstein College of Medicine · Sites in United States
Ages up to 4 wk · Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 5 Niemann-Pick Disease, Type C studies recruiting now, 4 set no upper age limit and none stop at 75 or younger; 5 take children under 18; 1 takes healthy volunteers.
This study: 1 Day to 120 Years · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
23 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 7 · Phase 2 9 · Phase 3 8
First in 2006; this study’s year is marked. 1 started in 2006.
By drug class, each counting the studies that test any of its medicines:
Median enrollment 33 across the 17 interventional studies, 900 across the 5 observational. Of the 13 that completed or were terminated, 10 (77%) have results posted.
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13 of 23 have an industry lead sponsor. The 10 most frequent:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has 5 studies filed under Niemann-Pick Disease, Type C — fewer than ten, so there is no comparison to draw.
2 of the studies in Niemann-Pick Disease, Type C with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT03655223RTI InternationalEarly Check: Expanded Screening in Newborns | 2026-11-30 |
| NCT05588167Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C | 2027-09-30 |
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Among the 23 studies in Niemann-Pick Disease, Type C with a site in United States, from their registry updates:
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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
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 to the method of specimen collection
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Started Aug 2006 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Niemann-Pick Disease, Type C →
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →