A single-center, cohort clinical study. Subjects of both sexes aged 18 to 65 inclusive with genetically confirmed diagnosis of limb-girdle muscular dystrophy type R2, who have signed the written informed consent form for this study.
The control and case groups should be age- and gender-matched.
Study Objectives:
- To evaluate a clinical status of a subject (MMT score; 6-minute walk test; North Star Assessment for dysferlinopathy (NSAD));
- To assess blood biochemistry;
- To characterize muscle involvement based on MRI results;
- To evaluate the progression of muscle involvement based on repeated MRI;
- To assess cardiac function with ECG, EchoCG and MRI;
- To determine a gait pattern and balance characteristics in patients with limb-girdle muscular dystrophy using electrophysiological techniques (Neurosoft Gait Assessment System Steadys; stabilometrics and plantography with "SIDAS");
- To characterize changes in subpopulation compositions of T- and B-lymphocytes, phagocytic activity of leukocytes (a phagocytic index, a phagocyte number, an index of phagocytosis completeness, lysosomal-cation and NBT tests);
- To assess average blood cytokine levels in subjects with limb-girdle muscular dystrophy (type R2) in various regions of the Russian Federation;
- To assess average blood cytokine levels in healthy subjects from various regions of the RF;
- To analyze the relationship between blood cytokine levels and the presence of a mutation in the dysferlin gene;
- To study the expression (immunohistochemistry and western-blotting) and distribution of dysferlin in impaired muscles of subjects with LGMDR2.
The clinical study includes the stages as follows:
- Subject enrollment - 24 months
- Data collection and analysis - 12 months
- Study Report - 30 days.