Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study ID
NCT05588167
Status
Recruiting
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Conditions

  • Niemann-Pick Disease, Type C

Eligibility Criteria

Sex
ALL
Age
3 Months - N/A
Healthy Volunteers
Not accepted

Study Details

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. ...

Key Dates

Start date
Nov 28, 2022
Status verified
Apr 2026
Primary completion
Sep 30, 2026
Completion
Sep 30, 2026

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Affected
    Patients with Niemann-Pick Disease, type C

Primary Outcome Measure

Clinical data, genomic markers [ Time Frame: 2 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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