Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 70
- 试验地点
- 2
- 主要终点
- Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa
研究概览
简要总结
Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies.
详细描述
We will obtain a detailed medical history and will perform a skin examination and brief physical exam. Photographs may be taken. We will ask questions about the size and duration wounds.
LAB TESTS We will draw blood to determine overall health status to include Hepatitis B, Hepatitis C, and Human Immunodeficiency Virus (HIV) testing. Genetic testing may also be performed.
BIOPSIES Biopsies may be collected to check for Collagen 7 and for antibodies to Collagen 7.
Based on the results obtained, it may be possible to identify patients who would qualify to participate in current or future clinical trials.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of RDEB by local dermatologist
- •7 years of age or older
排除标准
- •Medical instability limiting ability to travel to Stanford University Medical Center
结局指标
主要结局
Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa
时间窗: 10 years
Identification of subjects with Recessive Dystrophic Epidermolysis Bullosa for future studies
次要结局
未报告次要终点
研究者
Jean Yuh Tang
Professor
Stanford University