A Long-term Follow-up Study of Gaucher Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 200
- 试验地点
- 2
- 主要终点
- Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of Gaucher Disease
排除标准
- •Not meeting Inclusion criteria
结局指标
主要结局
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
时间窗: 10 years
Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.
次要结局
- Document long-term complications in Gaucher Disease.(10 years)
- Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam(10 years)
- Document adverse events subjects experience on enzyme replacement therapy(10 years)
- Document adverse events of subjects on substrate reduction therapy(10 years)
- Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.(10 years)
- Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.(10 years)
- Change in Parkinson's checklist collected every 6 months/1 year.(10 years)