NCT05588167 Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
| NCT ID | NCT05588167 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| Condition | Niemann-Pick Disease, Type C |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2022-11-28 |
| Primary Completion | 2026-09-30 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2022-11-28 with a primary completion date of 2026-09-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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 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
Contact & Investigator
Forbes D Porter, M.D.
PRINCIPAL INVESTIGATOR
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Frequently Asked Questions
Who can join the NCT05588167 clinical trial?
This trial is open to participants of all sexes, aged 3 Months or older, studying Niemann-Pick Disease, Type C. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05588167 currently recruiting?
Yes, NCT05588167 is actively recruiting participants. Contact the research team at desiree.labor@nih.gov for enrollment information.
Where is the NCT05588167 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT05588167 clinical trial?
NCT05588167 is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The principal investigator is Forbes D Porter, M.D. at Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The trial plans to enroll 100 participants.