ClinicalTrials.gov record NCT05588167

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age3 months old and older
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study gathers clinical records and a one-time blood sample for DNA from people with Niemann‑Pick disease type C (any age). The goal is to create a large database linking symptoms and genetic information. Participation involves a single blood draw and review of medical records; participants may receive up to $190. The study does not assign treatments.

What it is studying. The study is building the first large database of genomic and clinical information for NPC to study links between genetic markers and the variety and progression of NPC symptoms.

What the researchers hope to learn. 1) Identify correlations between NPC clinical features and genomic markers to better understand disease heterogeneity. 2) Identify genetic contributions to NPC progression that the researchers note could be explored as potential therapeutic targets. 3) Establish a comprehensive genomic and phenotypic database to support future NPC research.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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:

  • Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
  • Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
  • Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give one blood sample (a single blood draw) for DNA analysis. The study team will review the participant's medical records and record clinical and demographic information (diagnosis, symptoms and how long each symptom has been present, medications, test results, height/weight, etc.). Study staff will communicate with participants to explain the study and answer questions. Participants may receive up to $190.

How the study is structured. An observational, retrospective cohort study: participants give one blood sample for DNA and allow review of their past medical records. No treatments or experimental interventions are given.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Niemann-Pick disease type C

Clinical trials15 trials listed for Niemann-Pick disease type CEvery trial the registry lists for Niemann-Pick disease type C, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Niemann-Pick disease type C researchLatest monthly update: September 2026. Includes: Gene change range. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Nov 28, 2022
Primary completion
Sep 30, 2026 (estimated)
Study completion
Sep 30, 2026 (estimated)
Target enrollment
100 participants (estimated)
Last updated on registry
Aug 31, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • National Institutes of Health Clinical CenterRecruiting

    Bethesda, Maryland, 20892 · United States

Terms used on this page · explanations by MedicalUpdates.ai

natural history study
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
INCLUSION CRITERIA
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
informed consent form
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
biospecimen
A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
EXCLUSION CRITERIA
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
primary objective
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials