Actively Recruiting
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-06-08
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Niemann-Pick type C (NPC) disease is a rare and progressive neurodegenerative disorder that mainly affects the brain, liver, and spleen, but can also impact other parts of the body. Symptoms vary widely among individuals and may include seizures, difficulty moving or talking, or dementia. This research aims to better understand why NPC affects people differently by collecting detailed clinical and genetic information about the disease. Participants diagnosed with NPC will be involved in an observational study where their medical records will be reviewed to gather data on symptoms, duration, demographics, medications, and other test results. Each participant will have blood drawn once to analyze their DNA. This study will create the first and largest database combining clinical and genomic information to support future NPC research and potential therapeutic development. During the study, data on clinical findings and genomic markers will be collected and analyzed over a two-year period. Researchers will communicate with participants to discuss the study and address any questions. Participation may include providing medical records and a blood sample, with compensation of up to $190. The study focuses on understanding disease progression and variability rather than testing treatments.
CONDITIONS
Brief Title
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed and dated informed consent form provided
- Willingness to comply with all study procedures and be available for the study duration
- Male or female, any age, demographic or ethnic background
- Diagnosis of Niemann-Pick Disease, type C based on clinical, biochemical, or molecular testing
You will not qualify if you...
- Unwilling to provide consent
- Unable to provide a biospecimen to obtain DNA
- Unable to provide medical records or clinical data
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 2 years
Participants provide clinical data, medical records, and biospecimens to obtain genomic information for Niemann-Pick Disease, type C.
Visits as needed to collect clinical data and biospecimens
Duration - Up to 2 years
Participants are observed to establish a comprehensive genomic and phenotypic database over time.
Follow-up visits as scheduled over 2 years
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Desiree A Labor, C.R.N.P.
F
Forbes D Porter, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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