Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Disease documentation
研究概览
简要总结
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe inherited blistering skin disease caused by absence of type VII collagen. Patients with RDEB develop large, severly painful blisters and open wounds from minor trauma to their skin. In the future, we hope to start a gene transfer study on a specific group of RDEB subjects and we are screening subjects for that potential trial now.
详细描述
This study is a preparation for a gene transfer trial. In the gene transfer trial, we will transfect autologous RDEB keratinocytes with a type VII collagen containing retrovirus vector. We then plan to graft the genetically engineered and corrected autologous keratinocytes back on to wounds of the RDEB subject. We expect the grafts to attach as normal keratinocytes and replace the damaged skin with skin that is able to make type VII collagen and anchor normally to the dermis. We are trying to define the number of subjects 18 or older who meet the criteria for the gene transfer trial. We are offering the subjects the opportunity to be evaluated for the potential trial.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of RDEB by local dermatologist
- •18 years of age or more and willing to give consent
- •Estimated to have at least 100 to 200 sq. cm. areas of open erosions on the trunk or extremities suitable for skin grafting
- •Ability to undergo adequate anesthesia to allow grafting procedures to take place
- •Parents are alive, do not have EB, and they are willing to give consent for genetic testing
排除标准
- •Medical instability limiting ability to travel to Stanford University Medical Center
- •Participation in another clinical trial without prior approval
- •The presence of medical illness expected to complicate participation and/or compromise the safety of this technique
结局指标
主要结局
Disease documentation
时间窗: 1 year
Documentation of disease
documentation of disease
时间窗: 1 year
documentation of disease
次要结局
未报告次要终点
研究者
Alfred Lane
Professor of Dermatology and of Pediatricsy, Emeritus
Stanford University