Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies
研究概览
简要总结
This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).
详细描述
Limb Girdle Muscular Dystrophy (LGMD) comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies.
Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes).
Pompe disease is a rare, multisystemic, hereditary disease which is caused by pathogenic variations in the GAA gene. Late onset Pompe disease (LOPD) refers to cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year. LOPD is characterized by skeletal muscle weakness which causes mobility problems and impacts the respiratory system.
The overall goal of this project is to extend prior observational studies conducted within the GRASP LGMD network to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for multiple rare types of muscular dystrophy to hasten therapeutic development.
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 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age between 6-50 years at enrollment
- •Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with proximal weakness)
- •Genetic confirmation of a LGMD, DM2, or LOPD
- •FVC above 30% of predicted
排除标准
- •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
- •Participation in a clinical trial receiving an investigational product
结局指标
主要结局
To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies
时间窗: Baseline to 24 months
The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. 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.
次要结局
- To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
- To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
- To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.(Baseline to 24 months)
- To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
- To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.(Baseline to 24 months)
- To explore the utility of the Domain Delta as a patient-reported outcome measure in the muscular dystrophies(Baseline to 24 months)