A Long-term Follow-up Study of Gaucher Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Gaucher Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen. [Time frame: 10 years]
Secondary outcome measures (7)
- Document adverse events subjects experience on enzyme replacement therapy [Time frame: 10 years]
- Document adverse events of subjects on substrate reduction therapy [Time frame: 10 years]
- Document long-term complications in Gaucher Disease. [Time frame: 10 years]
- Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year. [Time frame: 10 years]
- Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year. [Time frame: 10 years]
- Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam [Time frame: 10 years]
- Change in Parkinson's checklist collected every 6 months/1 year. [Time frame: 10 years]
Eligibility criteria
Inclusion criteria
- Diagnosis of Gaucher Disease
Exclusion criteria
- Not meeting Inclusion criteria
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Other
Study locations
United States · 1 center
- Duke University Medical Center — Durham
Identifiers
NCT: NCT03190837 · Pro00081246