MRI on Persons With Mutations in POMT2 Gene (LGMD2N)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- MRI scan for qualitative analysis of muscle involvement
研究概览
简要总结
POMT2 mutation is known to cause Walker Warburg Syndrome and Muscle-Brain-Eye syndrome. Recently it has been connected to limb girdle muscular dystrophy (LGMD), a disorder characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. LGMD with POMT2 mutations is a new phenotype - type 2N. Very few patients with the LGMD2N phenotype has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Persons with genetically verified mutations in POMT2
排除标准
- •All contraindications for undergoing an MRI scan
结局指标
主要结局
MRI scan for qualitative analysis of muscle involvement
时间窗: One MRI scan per subject (exam lasts approximately 60 min.)
The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for qualitative analysis using the grading scale from 1 to 4 developed by Mercuri et al. (2007) to evaluate the involvement of muscles by looking at the fat infiltration.
次要结局
- Muscle Biopsy(One muscle biopsy per subject (last approximately 15 min.))
- Heart examination(Exam last approximately 45 min)
- Electromyography (EMG)(Exam last approximately 30 min)
- 10 meter walk test(Exam last approximately 5 min)
- Questionnaires(Data will be collected once for patients with LGMD2N (exam last approximately 45 min.))
- Neurological examination and test of muscle strength(Exam last approximately 15 min.)
- Forced Vital Capacity (FVC)(Exam last approximately 15 min)
研究者
Sofie Thurø Østergaard
Scholarship student
Rigshospitalet, Denmark