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Status:

RECRUITING

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

Lead Sponsor:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Conditions:

Niemann-Pick Disease, Type C

Eligibility:

All Genders

1-120 years

Brief Summary

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...

Detailed Description

Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-...

Eligibility Criteria

Inclusion

  • 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 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.

Exclusion

    Key Trial Info

    Start Date :

    August 14 2006

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    Estimated Enrollment :

    900 Patients enrolled

    Trial Details

    Trial ID

    NCT00344331

    Start Date

    August 14 2006

    Last Update

    January 9 2026

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    National Institutes of Health Clinical Center

    Bethesda, Maryland, United States, 20892