Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD)
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 551
- 试验地点
- 21
- 主要终点
- Medical history assessment
研究概览
简要总结
The purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for a minimum of eight years) at DMD participant's physical abilities, the medical problems they experience, and how they use health care services. Physical abilities will be compared to a group of healthy controls.
The second purpose of this study is to find out whether small, normal differences in the genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect how their disease progresses and relates to muscle strength/size and steroid response.
The third purpose of this study is to study genetic variations associated with DMD.
The final purpose of this study is to determine whether certain biomarkers are present in people with DMD and not in healthy controls.
详细描述
Phenotyping Study Aims
Aim 1: Longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function in subjects with DMD through the multicenter CINRG network.
Aim 2: Longitudinally assess activity limitations in subjects with DMD through CINRG with timed motor performance, burden of care, and functional status.
Aim 3: Longitudinally assess secondary conditions in subjects with DMD, and relative risks of developing those conditions based on exposure to preventive interventions.
Aim 4: Longitudinally assess participation, life satisfaction, service utilization and health-related quality of life in subjects with DMD.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 30 Years（Child, Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Medical history assessment
时间窗: Collected at yearly visits
Outcomes on ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests.
Strength and function
时间窗: Collected at yearly visits
These assessments include: * Quantitative muscle testing * Manual muscle testing * Pulmonary function testing * Functional evaluations (nine hole peg, six minute walk, North Star ambulatory assessment, Brooke and Vignos scales, Egen Klassification (EK) scale, and range of motion).
Quality of life
时间窗: Collected at yearly visits
These questionnaires include: * Pediatric Quality of Life Inventory (PedsQL) * Pediatric Orthopaedic Functional Health Questionnaire of the Pediatric Orthopaedic Society of North America (POSNA) * World Health Organization Quality of Life Assessment - Brief (WHO QOL Brief) * Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL) * Review of Systems
次要结局
- Biomarkers and genetic modifiers(Collected either once at any visit or each visit)