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

Recruitingn/aAges 3 Months - anyAllEunice Kennedy Shriver National Institute of Chilโ€ฆ
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In plain words

What the trial is, and whether it could suit you

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: Partic

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
* 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
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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