Creating a database for Niemann-Pick Disease, Type C
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
This study is collecting blood samples from people with Niemann-Pick Disease, Type C to build a database that helps researchers understand the disease better and find new treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 3 Months and up |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05588167 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals of any age diagnosed with Niemann-Pick Disease, Type C.
Not a fit: Patients who are unwilling to provide consent or unable to provide necessary biospecimens or medical records may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential treatments for Niemann-Pick Disease, Type C.
How similar studies have performed: While this approach is novel in its comprehensive database creation for NPC, similar studies in other rare diseases have shown success in enhancing understanding and treatment options.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 this trial is running
Bethesda, Maryland
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.