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Genetic Studies of Lysosomal Storage Disorders

StatusEnrolling by Invitation
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

The 50 most recent of 339 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. Re-verified, no change to tracked fields
  2. New version filed on ClinicalTrials.gov
  3. 27 versions Re-verified since Aug 23, 2025, no change to tracked fieldsv311-v337
  4. Enrollment target: 1050 to 1000v310
  5. 20 versions Re-verified since Feb 27, 2025, no change to tracked fieldsv290-v309
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT00001215
Lead Sponsor National Human Genome Research Institute (NHGRI)
Conditions Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
Enrollment 1,000 participants
Start Date
Updated on ClinicalTrials.gov