NCT00213811已完成不适用
Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
University Hospital, Strasbourg, France1 个研究点 分布在 1 个国家目标入组 40 人开始时间: 2003年6月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Outcome evaluated end 2005 and 2006
研究概览
简要总结
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult (age over 16 years old)
- •At least 3 of the five major criteria (retinitis pigmentosa, obesity, polydactyly, cognitive impairment, and kidney disorder) and/or BBS mutations identified
排除标准
- 未提供
结局指标
主要结局
Outcome evaluated end 2005 and 2006
Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
次要结局
- This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations
研究者
研究点 (1)
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