Gaucher Disease
Conditions
Keywords
gaucher, gaucher disease
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.
Interventions
None listed
Sponsors
Duke University
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Inclusion criteria
* Diagnosis of Gaucher Disease
Exclusion criteria
* Not meeting Inclusion criteria
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| Document long-term complications in Gaucher Disease. | 10 years | Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease. |
| 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. |
| 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. |
| 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. |
Countries
United States
Contacts
CONTACTJanet Blount
PRINCIPAL_INVESTIGATORPriya Kishnani, MD
Duke University
Outcome results
None listed