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Observational Study for Niemann-Pick Disease, Type C

This study aims to create a comprehensive database of information for Niemann-Pick Disease, Type C (NPC), a rare brain and body disorder. Researchers want to understand why NPC affects people differently, as symptoms can vary widely and appear at different ages. By collecting clinical information and genetic markers (genomic data), they hope to find connections between symptoms and genetic factors. This will help them understand the disease better and identify potential targets for future treatments. The study plans to include 100 participants of any age, gender, or background who have NPC.

Study design
This is an observational study, meaning participants will not receive any experimental treatments. It aims to enroll 100 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Clinical data and whole genome information will be measured at 2 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05588167

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

Recruiting
Not specifiedAges 3+Observational
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
~100 participants
Updated 2026-08-31 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Clinical data, genomic markers
Measured over 2 years
+1 more outcome measured

Conditions

Niemann-Pick Disease, Type C

Explore related trials

Niemann-Pick Disease, Type C

NCT05588167

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Forbes D Porter, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who to contact

Desiree A Labor, C.R.N.P.
[email protected]
(240) 678-7868
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

What this trial measures

  • Clinical data, genomic markers2 years

    Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.

  • Whole genome2 years

    Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.