A Long-term Follow-up Study of Gaucher Disease

Gaucher Disease Clinical Trial

Official title:

A Long-term Follow-up Study of Gaucher Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03190837
• Other study ID #: Pro00081246
• Status: Recruiting
• Start date: June 12, 2017
• Est. completion date: January 2027

Study information

• Verified date: August 2023
• Source: Duke University
• Contact: Janet Blount
• Phone: 919-681-7962
• Email: janet.blount[@]duke.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: January 2027
• Est. primary completion date: January 2027
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosis of Gaucher Disease

Exclusion Criteria:

• Not meeting Inclusion criteria

Related Conditions & MeSH terms

• Gaucher Disease

Locations

Country	Name	City	State
United States	Duke University Medical Center	Durham	North Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Duke University

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.	Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.	10 years
Secondary	Document adverse events subjects experience on enzyme replacement therapy	Use Gaucher patient's therapy history to understand effects of enzyme replacement therapy long term.	10 years
Secondary	Document adverse events of subjects on substrate reduction therapy	Use Gaucher patient's therapy history to understand effects of substrate reduction therapy long term.	10 years
Secondary	Document long-term complications in Gaucher Disease.	Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.	10 years
Secondary	Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.	We will use the SF-36 that will be collected every 6 months to 1 year to assess quality-of-life in Gaucher patients.	10 years
Secondary	Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.	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.	10 years
Secondary	Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam	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.	10 years
Secondary	Change in Parkinson's checklist collected every 6 months/1 year.	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.	10 years