Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)
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
- Validation of Biomarkers
研究概览
简要总结
To characterize the clinical and molecular phenotype of FSHD.
详细描述
The purpose of this study is to validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD patients. These biomarkers are responsive to the upregulation of the DUX4 gene and protein, which is the fundamental molecular defect in FSHD. In anticipation of a future clinical trial, the Investigators intend to assess the correlation between the expression of these relevant biomarkers and clinical functional measures. The Investigators will also explore the utility of muscle MRI in identifying regions of muscle suitable for sampling for relevant biomarkers, as MRI-related signal changes have been proposed as an anatomic marker of early FSHD pathology.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 13 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •13 years or older
- •Genetically proven FSHD1 or FSHD2 as determined by the investigators
排除标准
- •Inability to complete an MRI scan (Adults only).
- •Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
结局指标
主要结局
Validation of Biomarkers
时间窗: Through study completed, anticipated to be 4 years.
To validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD participants. Each participant will provide data at a single timepoint. The data in totality will be reviewed upon study completion.
次要结局
未报告次要终点
研究者
Kevin Flanigan
Director, Center for Gene Therapy, Professor of Pediatrics and Neurology
Nationwide Children's Hospital