Natural History Study of Oculopharyngeal Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 主要终点
- Muscle Strength over time
研究概览
简要总结
The objective of this study is to test a set of clinical outcome measures longitudinally in a cohort of OPMD patients to identify ones that show quantifiable change over time as the disease progresses. The investigators' goal is to delineate the natural history of OPMD.
详细描述
OPMD patients will undergo a screening evaluation and testing to confirm the participants carry the OPMD mutation. Subjects fulfilling the inclusion/exclusion criteria will be enrolled and followed prospectively at regular intervals to determine the natural history of this disease. Measures of muscle function and swallowing will be made at baseline and at follow-up visits to measure natural clinical progression.
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
- 18 Years 至 99 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •OPMD by genetic criteria
- •≥ 18 years old
- •English-speaking
排除标准
- •Another medical condition that precludes safe completion of study tasks (such as severe cardiac or respiratory disease)
- •Another medical condition that causes symptoms similar to OPMD (i.e., ptosis, dysphagia [trouble swallowing] or limb weakness).
- •History of head or neck cancer, or history of radiation to the head or neck
- •A videofluoroscopic swallow study within the 12 months prior to study enrollment
结局指标
主要结局
Muscle Strength over time
时间窗: Baseline and every 9 months for 3 years
Change in Manual muscle testing over time
次要结局
- Dysphagia severity over time(Baseline and every 9 months for 3 years)