Characterizing Phenothypes in Non Ambulant Duchenne Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 250
- 试验地点
- 2
- 主要终点
- motor function
研究概览
简要总结
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function
详细描述
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function, to retrospectively review similar information on the data collected in the last decade and to establish the effect of steroids after loss of ambulation on different aspects of function.
We also aim to use this integrated approach to identify patterns of severity and progression, the most appropriate outcome measures and endpoints in each group and possible genotype/phenotype correlations.
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
- 8 Years 至 35 Years（Child, Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently.
- •All patients in whom consent can be obtained will be enrolled with no exclusion criteria.
排除标准
- •Patients lacking genetic confirmation of Duchenne Muscular Dystrophy
- •Patients still able to walk for more than 10 meters.
结局指标
主要结局
motor function
时间窗: 24 months
assessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months
respiratory function
时间窗: 24 months
Assessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment
cardiac function
时间窗: 24 months
Assessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months
次要结局
- identify patterns of severity and of progression related to differnt genotypes(24 months)
研究者
Pane Marika
prof associate
Fondazione Policlinico Universitario Agostino Gemelli IRCCS