Genetic Studies of Lysosomal Storage Disorders

Enrolling by invitation

Conditions studied: Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease

In brief

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 facts

Study ID

NCT00001215

Run by

National Human Genome Research Institute (NHGRI)

People needed

1000

Starts

1995-03-08

Last updated by the study team

2026-07-31

Who can join

Age: 0 and older, up to 110. Sex: any. Healthy volunteers: accepted.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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