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 3 Months and older. Per ClinicalTrials.gov, last updated 2026-10-15.
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 one of 2 that started in 2022, is one of 5 observational ones, and was the 21st 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+
IntraBio Inc · Sites in United States, Australia, Czechia and 5 more countries
Ages 4+
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 1 days–120 yrs · Healthy volunteers
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: 3 Months and older · all sexes · no healthy volunteers.
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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. 2 started in 2022.
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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Background:
Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body.
Objective:
This study will create the first and largest database about NPC.
Eligibility:
People of any age who have NPC.
Design:
Participants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA.
The participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results.
The study team will communicate with participants. They will discuss the study and answer any questions.
Participants will receive up to $190.
Study Description:
The primary objective of this protocol is to investigate the phenotypic heterogeneity of NPC by using clinical and genomic data, and to establish a comprehensive database to facilitate future investigations.
Objectives:
Individuals with Niemann-Pick Disease, 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.
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
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.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with Niemann-Pick Disease, type C
Clinical data, genomic markers
Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
Time frame: 2 years
Whole genome
Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
Time frame: 2 years
Started Nov 2022 (actual). Primary completion is estimated for Sep 2027, 58 months after the start.
Since we started tracking on Sep 25, 2026, the dates moved once, on Oct 15, 2026: primary completion Sep 2026 → Sep 2027 and completion Sep 2026 → Sep 2027.
Earlier changes are on the record history on ClinicalTrials.gov ↗
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) →