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Genetic Studies of Lysosomal Storage Disorders

NCT00001215 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2026-05-22

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Ellen Sidransky, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
1995-03-08

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001215 on ClinicalTrials.gov