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Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

Recruitingn/aAges 1 Day - 120 YearsAllEunice Kennedy Shriver National Institute of Chil…
NCT00344331 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial. Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center. * Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests. * Lumbar puncture (spinal tap): A sample

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📋 Eligibility rules (as published)
* 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.
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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
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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