Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 60
- 试验地点
- 22
- 主要终点
- Modified Hammersmith score change from baseline
研究概览
简要总结
This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten additional pediatric patients with mutation in MTM1 or DNM2 genes). the patients are planned to be enrolled in one year leading to an expected total number of 70 patients followed at least over 1 year period. Data from the study will be used to characterize the disease course of CNM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients of any age (newborns included) may participate
- •Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must be provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
- •Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 gene
- •Male or symptomatic female. A symptomatic female will be defined by the motor function assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA) below 80% of the total score.
- •Willing and able to comply with all protocol requirements and procedures.
- •In France only: Affiliated to or a beneficiary of a social security category
排除标准
- •Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease
- •Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine
- •For women: pregnancy or current breastfeeding
结局指标
主要结局
Modified Hammersmith score change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Modified Hammersmith Functional Motor Scale. The total test score can range from 0 if the subject cannot perform any of the items to 40 if all the items are fully achieved
MFM score change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Motor Function Measure scale. The total test score can range from 0 if the subject cannot perform any of the items to 100 if all the items are fully achieved.
Peak Cough Flow change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score
6MWD change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
6 Minute Walking Distance
Pinch strength change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
MyoPinch
Forced Vital Capacity change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
CHOP-INTEND score change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
Maximum Inspiratory Pressure change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Expiratory Pressure change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline
时间窗: Baseline, 6 months, 12 months and every year up to 60 months
MyoGrip
次要结局
未报告次要终点