NCT05588167Recruiting
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Source: ClinicalTrials.gov · Last updated 15 Oct 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 19 Oct 2022
- Start date
- 28 Nov 2022
- Primary completion date
- 30 Sept 2027
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Diseases
- Frontotemporal dementia
- NCT number
- NCT05588167
What you commit to
- Study type: Observational
- Planned participants: 100
- From 28 Nov 2022 to the primary completion date, 30 Sept 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Unwilling to provide consent
- Unable to provide biospecimen to obtain DNA
- Unable to provide medical records or clinical data
Criteria the registry did not label
- INCLUSION CRITERIA;
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Provision of signed and dated informed consent form
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, any age, demographic or ethnic background will be eligible for this study
- Diagnosis of NPC will be based on clinical, biochemical or molecular testing.
Age in the registry: 3 months to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.