NCT02509650Unknown不适用
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
University Hospital, Strasbourg, France2 个研究点 分布在 1 个国家目标入组 25 人开始时间: 2015年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 25
- 试验地点
- 2
- 主要终点
- Number of patients with a deleterious mutation
研究概览
简要总结
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •patients affected by familial lipomatosis
- •patients with rare dermatologic disease without molecular diagnosis
- •written informed consent is obtained from the patient and his/her family
排除标准
- •the patient does not want to participate to the protocol
- •the patient is already included in another study using next generation sequencing technologies
结局指标
主要结局
Number of patients with a deleterious mutation
时间窗: 6 months
Validation of the exome sequencing results will be done by sanger sequencing
次要结局
未报告次要终点
研究者
研究点 (2)
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