MRI and Muscle Involvement in Patients With Mutations in GMPPB
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 4
- 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
Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders 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.
A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB 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
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Persons with genetically verified mutations in GMPPB
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 developed by Mercuri et al. (2007).
次要结局
- Muscle biopsy for biochemical investigation(One muscle biopsy per subject (last approximately 15 min.))
- 10 meter walk test(Exam last approximately 5 min.)
- Neurological examination and test of muscle strength(Exam last approximately 15 min.)
- Questionnaires(Data will be collected once for patients with LGMD 2T (exam last approximately 45 min.))
- Heart examination(Exam last approximately 45 min)
- Forced Vital Capacity (FVC)(Exam last approximately 15 min)
- Electromyography (EMG)(Exam last approximately 30 min)
研究者
Sofie Thurø Østergaard
Bachelor of Science
Rigshospitalet, Denmark