A Long-term Follow-up Study of Gaucher Disease

Recruiting

• Conditions: Gaucher Disease

• Registration Number: NCT03190837
• Lead Sponsor: Duke University

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 Timeline

• Study First Submitted: 2017-05-26
• Study Start: 2017-06-12
• Study First Submitted QC: 2017-06-15
• Study First Posted: 2017-06-19
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-07
• Last Update Posted: 2023-08-09
• Primary Completion: 2027-01
• Study Completion: 2027-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Diagnosis of Gaucher Disease

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Exclusion Criteria

• Not meeting Inclusion criteria

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.	10 years	Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.

Secondary Outcome Measures

Name	Time	Method
Document long-term complications in Gaucher Disease.	10 years	Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.
Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam	10 years	The investigators will use the Neurological follow-up exam, that will be performed at return visit and every 6 months to 1 year afterward, to screen patients for neurological symptoms related to Gaucher Disease.
Document adverse events subjects experience on enzyme replacement therapy	10 years	Use Gaucher patient's therapy history to understand effects of enzyme replacement therapy long term.
Document adverse events of subjects on substrate reduction therapy	10 years	Use Gaucher patient's therapy history to understand effects of substrate reduction therapy long term.
Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.	10 years	We will use the SF-36 that will be collected every 6 months to 1 year to assess quality-of-life in Gaucher patients.
Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.	10 years	The investigators will use the Small Fiber Neuropathy Screening List every 6 months to 1 year to monitor small fiber neuropathy symptoms in Gaucher patients.
Change in Parkinson's checklist collected every 6 months/1 year.	10 years	The investigators will use the Parkinson's checklist that will be collected every 6 months to 1 year to screen patients for Parkinson's symptoms potentially related to Gaucher Disease.

Trial Locations

Locations (1)

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States