NCT03190837

A Long-term Follow-up Study of Gaucher Disease

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 200 (estimated)
• Sponsor: Duke University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: —

Summary

The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.

Detailed description

The study aims (aims a-c) will be accomplished by the systematic monitoring of health records. Health information will be extracted from medical records for patients followed at Duke. Medical records will be requested from treating physicians outside of Duke. The PI, (Dr. Kishnani) a recognized expert in Gaucher disease, is a consultant to the treating physician of virtually all subjects in this study. Subject health status will be monitored at least on an annual basis and as regularly as the medical information is obtained from the treating physician. Enrollment in this study will not alter the standard of care treatment for patients with Gaucher disease.

Conditions

• Gaucher Disease

Timeline

• Start date: 2017-06-12
• Primary completion: 2027-01-01
• Completion: 2027-01-01
• First posted: 2017-06-19
• Last updated: 2025-09-22

Locations

1 site across 1 country: United States