Defining Endpoints in Becker Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 80
- 试验地点
- 21
- 主要终点
- To assess the natural history of measures of muscle function in BMD
研究概览
简要总结
This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)
详细描述
Becker Muscular Dystrophy (BMD) is most frequently due to in-frame mutations in the dystrophin gene that are associated with reduced levels of frequently shortened dystrophin, though other mutations may be related to the Becker phenotype. There is wide variation in the age of onset and degree of progression, ranging from childhood to late adulthood. The more severe form of dystrophinopathy, Duchenne muscular dystrophy, has a more characteristic rate of progression and overall natural history. The wide variation in severity of progression has led to challenges in the design and conduct of approaching therapeutic trials. There is a need for a more rigorous natural history study to assist in the design of these promising therapeutic trials.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 6 Years 至 —（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •For ages 6-12
- •Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)
- •Genetic confirmation of an in-frame dystrophin mutation
- •Willing and able to give informed consent and follow all procedures and requirements
- •For ages 13 and older
- •Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)
- •Genetic confirmation of a dystrophin mutation
- •Willing and able to give informed consent and follow all procedures and requirements
- •For participants in the MRI substudy:
- •1. Ambulatory, defined as able to walk 10 meters without assistive devices (orthotics allowed)
排除标准
- •For ages 6-12
- •Out of frame dystrophin mutation
- •Use of chronic corticosteroids at baseline, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
- •Non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
- •>16 hours of ventilatory support
- •Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.
- •Under the age of 6 at time of enrollment
- •For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
- •For ages 13 and older
- •Loss of ambulation prior to age 16
- •Use of chronic corticosteroids, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population
- •Less than 30% of the overall population will be non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)
- •>16 hours of ventilatory support
- •Subjects aged 13-16 only: time to rise >10 seconds
- •For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
结局指标
主要结局
To assess the natural history of measures of muscle function in BMD
时间窗: Through study completion, an average of 2 years
North Star Assessment for LGMD (NSAD: The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD and is being evaluated in BMD due to the similar limb-girdle pattern of weakness. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.
TIMED UP-AND-GO (TUG)
时间窗: Through study completion, an average of 2 years
The TUG will be administered using the appropriate stable seating surface (i.e., cube chair or straight back chair) to achieve 90 degree of both hip and knee flexion when participant is seated with both feet flat on the floor to start. The test should be performed barefoot. The fastest time to stand from the chair, walk 3 meters, and return to seated, will be recorded.
HAND HELD DYNAMOMETRY (HHD) AND GRIP
时间窗: Through study completion, an average of 2 years
Hand held dynamometry using the MicroFET2 myometer will be utilized to capture isometric strength in target muscle groups. Maximum strength in kilograms will be reported for each muscle group provided a continuous scale variable for analysis. CITEC myometer will be used to measure the and Grip of the subject. These pinch and grip techniques will also capture the maximum strength in newtons for the muscle groups involved.
Measures of Pulmonary Function (MEP and MIP)
时间窗: Through study completion, an average of 2 years
Sitting maximal expiratory and inspiratory pressures (MEP and MIP) will be assessed.
Measures of Pulmonary Function (other)
时间窗: Through study completion, an average of 2 years
Use of nocturnal or daytime positive pressure ventilation (PPV) (e.g., BiPAP or CPAP) will be recorded.
Measure of systolic and diastolic function (ECHO)
时间窗: Through study completion, an average of 2 years
A transthoracic echocardiogram (ECHO) will be performed. Measures of presence of systolic and diastolic function will be recorded.
4-Stair Climb
时间窗: Through study completion, an average of 2 years
Participants will perform the 4-stair climb with instructions to ascend 4 steps as quickly and as safely possible, using handrails if needed.
100-Meter Timed Test
时间窗: Through study completion, an average of 2 years
The participant will be asked to complete 4 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able and the time in seconds is recorded.
PERFORMANCE OF UPPER LIMB 2.0 (PUL)
时间窗: Through study completion, an average of 2 years
The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders.
Measure of ejection fraction (ECHO)
时间窗: Through study completion, an average of 2 years
A transthoracic echocardiogram (ECHO) will be performed. Measures of ejection fraction will be recorded.
Measures of Pulmonary Function (Seated and supine FVC)
时间窗: Through study completion, an average of 2 years
Spirometry will be performed in a sitting and supine position using standardized equipment. Forced vital capacity (FVC) sitting and supine.
次要结局
未报告次要终点