Spanish Natural History Study for LAMA2 Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Change in Motor function Measurement (MFM32) score
研究概览
简要总结
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
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
- 0 Minutes 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
- •Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
排除标准
- 未提供
结局指标
主要结局
Change in Motor function Measurement (MFM32) score
时间窗: Change from baseline through study completion, an average of 5 years
Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score yearly, over a period of 5 years.
Change in Motor Milestones
时间窗: Change from baseline through study completion, an average of 5 years
Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)
Change in Muscle Echogenicity by Muscle Ultrasound
时间窗: Change from baseline through study completion, an average of 5 years
A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (Score 1-4): Heckmatt grade 1 represents a normal muscle image, Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions, Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture, and Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
次要结局
未报告次要终点