Evaluation of markers in Niemann-Pick Disease, Type C
Official title: Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Run by National Institutes of Health Clinical Center (CC) · NCT00344331 · Data updated 2026-11-12
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.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Day to 120 Years |
| Sex | All |
| Enrollment | 900 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | August 14, 2006 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT00344331 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals of any age with a confirmed diagnosis of Niemann-Pick Disease, Type C.
✕Probably not a fit
Patients who are too ill to travel to the NIH or have rapidly progressive neonatal cholestasis may not benefit from this study.
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 evaluate clinical and laboratory tests to identify potential biomarkers that could indicate the progression of Niemann-Pick Disease, Type C (NPC). It will involve medical evaluations, including neurological assessments and biochemical tests, conducted every six months over 4- to 5-day admissions at the NIH Clinical Center. The study seeks to establish a baseline and rate of progression of these markers in NPC patients, which may later assist in measuring responses to investigational treatments. Participants of any age with a confirmed diagnosis of NPC will be included.
Why it matters
Potential benefit: If successful, this study could lead to the identification of reliable biomarkers that may improve the assessment of treatment efficacy for Niemann-Pick Disease, Type C.
How similar studies have gone: While there have been studies on Niemann-Pick Disease, this approach focusing on longitudinal biomarker evaluation is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Affected Subjects The following individuals may be enrolled as in this study: * All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular. * Both NPC1 and NPC2 patients. * Patients of any age * Males or females * Any ethnic background EXCLUSION CRITERIA: Individuals will not be enrolled in this study if: * They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home. * They have rapidly progressive neonatal cholestasis. * They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission). Unaffected Subjects Individuals may be enrolled for data and biospecimen collection if: * They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population. * There is no diagnosis or suspicion of NPC disease, and consent is provided to be included in the control or caregiver population. Individuals will not be enrolled for biospecimen collection if: * Consent is not provided * They have a contraindication to the method of specimen collection * Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.
Where it's running
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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: Derek M Alexander
- Email: derek.alexander@nih.gov
- Phone: (301) 827-0387
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.