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ENROLLING BY INVITATION
NCT00001215

Genetic Studies of Lysosomal Storage Disorders

Sponsor: National Human Genome Research Institute (NHGRI)

View on ClinicalTrials.gov

Summary

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.

Official title: Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

Key Details

Gender

All

Age Range

1 Month - Any

Study Type

OBSERVATIONAL

Enrollment

1000

Start Date

1995-03-08

Completion Date

Not specified

Last Updated

2026-03-31

Healthy Volunteers

Yes

Locations (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States