Creating a database for Niemann-Pick Disease, Type C

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to establish the first and largest database of genomic and phenotypic information for Niemann-Pick Disease, Type C (NPC). Researchers will collect clinical and genomic data from individuals diagnosed with NPC to understand the disease's heterogeneity and identify potential therapeutic targets. Participants will provide a single blood sample, which will be analyzed to correlate clinical findings with genetic markers. The ultimate goal is to enhance the understanding of NPC and support future research efforts.

Why it matters

Who can join: the full rules

* INCLUSION CRITERIA;

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. Provision of signed and dated informed consent form
2. Stated willingness to comply with all study procedures and availability for the duration of the study
3. Male or female, any age, demographic or ethnic background will be eligible for this study
4. 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:

1. Unwilling to provide consent
2. Unable to provide biospecimen to obtain DNA
3. Unable to provide medical records or clinical data

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Forbes D Porter, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: Desiree A Labor, C.R.N.P.
• Email: desiree.labor@nih.gov
• Phone: (240) 678-7868

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• N-acetyl-L-leucine for Niemann-Pick type C

  This trial tests whether N-acetyl-L-leucine helps people aged 4 and older with Niemann-Pick type C by comparing the medicine to a placebo in a randomized, double-blind crossover design.

  Recruiting Phase 3 IntraBio Inc · Rochester, Minnesota and 13 other locations · NCT05163288

• Evaluation of markers in Niemann-Pick Disease, Type C

  This study is trying to find signs in the body that show how Niemann-Pick Disease, Type C is getting worse, to help track progress and see how well new treatments might work for people with this condition.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT00344331

• VLCPUFA-rich fish oil and standard DHA oil: who reaches a higher omega-3 index?

  This study tests whether VLCPUFA-rich fish oil raises the blood omega-3 index more than a standard DHA-rich fish oil in healthy adults aged 18–60.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT07882160

• Blood biomarkers for immune-related neuropsychiatric conditions

  This study tests whether blood biomarkers can help identify neuropsychiatric disorders that may be linked to the immune system in people of any age.

  Recruiting at 3 sites National Institutes of Health Clinical Center (CC) · Los Angeles, California and 2 other locations · NCT07877246

• First-in-human imaging of PDE4D with [11C]JMJ-129-d2 in healthy volunteers

  A new PET tracer called [11C]JMJ-129-d2 is being tested in healthy adults to see if it safely and reliably images the brain’s PDE4D enzyme and to measure how the tracer distributes in the body.

  Recruiting Phase 1 National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT07853781

• Pain patterns in rheumatic diseases: see if pain works differently in patients and healthy people

  This observational study tests how pain is experienced and measured in people with rheumatic diseases compared with healthy volunteers.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT07829497

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.