To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.
Age range
18 Years – 85 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Сlinical status of patients with dysferlinopathy (MMT score)
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy ( North Star Assessment for dysferlinopathy)
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (Hand Held Dynamometry).
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (6-minute walk test)
Timeframe: Through study completion at 24 months
Clinical blood test (level of hemoglobin)
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of hematocrit
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of RBC
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of WBC
Timeframe: Through study completion at 24 months.
Clinical blood test. Levels of ESR
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of platelets
Timeframe: Through study completion at 24 months.
Biochemical blood test.
Timeframe: Through study completion at 24 months
Biochemical blood test. Level of sodium
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of calcium
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of creatinine
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of glucose
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of uric acid
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of urea
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of ALT
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of AST
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of total protein
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of CPK
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of triglycerides
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of CRP
Timeframe: Through study completion at 24 months.
Blood cytokine levels in subjects with dysferlinopathy and healthy volunteers.
Timeframe: Through study completion at 24 months
Autoantibodies in patients with dysferlinopathy.
Timeframe: Through study completion at 24 months
Muscle MRI in patients with dysferlinopathy.
Timeframe: Through study completion at 24 months.
Subpopulation compositions of T-lymphocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of B-lymphocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (NBT test)
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (lysosomal-cation test).
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes (a phagocytic index) in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Gait pattern and balance characteristics in patients with limb-girdle muscular dystrophy R2.
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). Myocardium mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). RV
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of LV mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LA
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Electrocardiography). Outcome 13
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of EF
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent).
Timeframe: Through study completion at 24 months.
Morphological muscle study
Timeframe: Through study completion at 24 months.