A Long-term Follow-up Study of Gaucher Disease
Overview
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Duke University
- Enrollment
- 200
- Locations
- 1
- Primary Endpoint
- Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
Overview
Brief 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.
Study Design
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Prospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Diagnosis of Gaucher Disease
Exclusion Criteria
- •Not meeting Inclusion criteria
Outcomes
Primary Outcomes
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
Time Frame: 10 years
Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.
Secondary Outcomes
- Document long-term complications in Gaucher Disease.(10 years)
- Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam(10 years)
- Document adverse events subjects experience on enzyme replacement therapy(10 years)
- Document adverse events of subjects on substrate reduction therapy(10 years)
- Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.(10 years)
- Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.(10 years)
- Change in Parkinson's checklist collected every 6 months/1 year.(10 years)