A Long-term Follow-up Study of Gaucher Disease

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.

Study Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Janet Blount; Phone Number: 919-681-7962; Email: janet.blount@duke.edu

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

We will be recruiting patients with Gaucher Disease of all ages, followed at Duke University Medical Center, or non-Duke patients who have contacted Duke and expressed interest in participating.

Description

Inclusion Criteria:

• Diagnosis of Gaucher Disease

Exclusion Criteria:

• Not meeting Inclusion criteria

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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
Document long-term complications in Gaucher Disease.	Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.	10 years
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
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
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
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

Collaborators and Investigators

• Sponsor: Duke University
• Investigators: Principal Investigator: Priya Kishnani, MD, Duke University

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2017
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027

Study Registration Dates

• First Submitted: May 26, 2017
• First Submitted That Met QC Criteria: June 15, 2017
• First Posted (Actual): June 19, 2017

Study Record Updates

• Last Update Posted (Actual): August 9, 2023
• Last Update Submitted That Met QC Criteria: August 7, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: gaucher disease; gaucher
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: Pro00081246

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No