PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 85
- 试验地点
- 16
- 主要终点
- Quality of life
研究概览
简要总结
This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.
详细描述
We will utilize the Cooperative International Neuromuscular Research group (CINRG) network to collect cohorts of Becker muscular dystrophy (BMD) patients with in-frame deletions in the dystrophin gene. We will collect clinical data across multiple body systems and correlate these findings to the high-resolution deletion break-point mapping performed from the tissue samples. We will investigate the observed variability to deepen our understanding of molecular mechanisms relevant to the optimization of exon skipping therapeutic approaches.
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 or older
- •Diagnosis of BMD with an in-frame deletion in the dystrophin gene, where the boundaries of the mutations are confirmed.
排除标准
- •Investigator assessment of inability to comply with protocol
结局指标
主要结局
Quality of life
时间窗: Annual
These questionnaires include: * Pediatric Quality of Life Inventory (PedsQL) * Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
Strength and function
时间窗: Annual
Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests
时间窗: Annual
次要结局
未报告次要终点