Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 53
- 试验地点
- 9
- 主要终点
- Tissue Collection
研究概览
简要总结
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.
详细描述
The purpose of this tissue bank is to collect blood and skin samples from participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene. The specific dystrophin changes that we are interested in studying are those that would work with exon-skipping therapies in patients with DMD, specifically deletions of the follow exons: 10-52, 13-50, 29-50, 43-52, 44, 43-50, 45-50, 45-52, 46, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55, 46-60, 47-50, 47-52, 48-50, 49-50, 50, 52, 52-63, 48-52, 49-52, 50-52.
These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.
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
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Age 4 and above
- •Diagnosis of DMD with a confirmed out-of-frame dystrophin gene deletions that could be corrected by skipping exon 45, 51, or 53 based on past genetic testing.
排除标准
- •Investigator assessment of inability to comply with blood and skin sample collection
结局指标
主要结局
Tissue Collection
时间窗: 1 day
Collection of blood, skin and optional muscle samples
次要结局
未报告次要终点