Genetic Studies of Lysosomal Storage Disorders

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT00001215
Status
Enrolling By Invitation

Conditions

Eligibility Criteria

Sex
ALL
Age
1 Week - 110 Years
Healthy Volunteers
Accepted

Study Details

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders. There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.

Key Dates

Start date
Mar 8, 1995
Status verified
Jun 2026

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Control
    healthy volunteers
  • Arm: Family Member
    a family member of a documented proband
  • Arm: Patient
    the participant on initial screening must be found to have or be a carrier of a documented lysosomal storage disorder

Primary Outcome Measure

Clinical Phenotypes [ Time Frame: ongoing ]

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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