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Enrolling by Invitation

NCT Number: NCT04824040

Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF

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.

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Key information

Conditions

Dysferlinopathy DMAT LGMDR2 Limb-girdle muscular dystrophy, type 2B Miyoshi Myopathy

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Human Stem Cells Institute

Moscow, 119333, Russia

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 18 to 85 (inclusive) years-old subjects of both sexes;
  • A signed written informed consent form;
  • Genetically confirmed diagnosis of limb-girdle muscular dystrophy (type 2B) (a case group)

Exclusion criteria

  • A subject who is an investigator, study assistant, study coordinator and a member of the other personnel indirectly or directly associated with the conduct of the study;
  • Acute medical conditions associated with visceral dysfunction, life-threatening conditions which occurred less than 6 months prior to enrollment into the study such as acute cardiac, renal, hepatic insufficiency, myocardial infarction or an acute cerebrovascular accident (stroke) as well as infectious diseases;
  • Excessive alcohol consumption (> 20 g/day).

Treatment and study plan

Primary outcomes

  1. Сlinical status of patients with dysferlinopathy (MMT score)

    Time frame: Through study completion at 24 months

    Muscle strength will be assessed using MMT and will be expressed in points for each of the muscle groups assessed.

  2. Сlinical status of patients with dysferlinopathy ( North Star Assessment for dysferlinopathy)

    Time frame: Through study completion at 24 months

    North Star Assessment for Dysferlinopathy (NSAD) is a functional scale that will be used to measure motor performance in individuals with dysferlinopathy (includes 29 items).

  3. Сlinical status of patients with dysferlinopathy (Hand Held Dynamometry).

    Time frame: Through study completion at 24 months

    Hand held dynamometry using the MicroFET2 myometer will be utilized to capture isometric muscle strength. Maximum strength in kilograms will be reported for each muscle group.

  4. Сlinical status of patients with dysferlinopathy (6-minute walk test)

    Time frame: Through study completion at 24 months

    The participant will be asked to complete maximal distance in 6 minet as quickly as safely possible and the time in seconds is recorded.

  5. Clinical blood test (level of hemoglobin)

    Time frame: Through study completion at 24 months.

    Level of hemoglobin is planned to be assessed in patients with dysferlinopathy.

  6. Clinical blood test. Level of hematocrit

    Time frame: Through study completion at 24 months.

    Level of hematocrit (%) is planned to be assessed in patients with dysferlinopathy.

  7. Clinical blood test. Level of RBC

    Time frame: Through study completion at 24 months.

    Level of RBC is planned to be assessed in patients with dysferlinopathy.

  8. Clinical blood test. Level of WBC

    Time frame: Through study completion at 24 months.

    Level of WBC is planned to be assessed in patients with dysferlinopathy.

  9. Clinical blood test. Levels of ESR

    Time frame: Through study completion at 24 months.

    Levels of ESR (mm/h) is planned to be assessed in patients with dysferlinopathy.

  10. Clinical blood test. Level of platelets

    Time frame: Through study completion at 24 months.

    Level of platelets is planned to be assessed in patients with dysferlinopathy.

  11. Biochemical blood test.

    Time frame: Through study completion at 24 months

    Levels of potassium (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  12. Biochemical blood test. Level of sodium

    Time frame: Through study completion at 24 months.

    Level of sodium (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  13. Biochemical blood test. Level of calcium

    Time frame: Through study completion at 24 months.

    Level of calcium (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  14. Biochemical blood test. Level of creatinine

    Time frame: Through study completion at 24 months.

    Level of creatinine (μmol/l) is planned to be assessed in patients with dysferlinopathy.

  15. Biochemical blood test. Level of glucose

    Time frame: Through study completion at 24 months.

    Level of glucose (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  16. Biochemical blood test. Level of uric acid

    Time frame: Through study completion at 24 months.

    Level of uric acid (μmol/l) is planned to be assessed in patients with dysferlinopathy.

  17. Biochemical blood test. Level of urea

    Time frame: Through study completion at 24 months.

    Level of urea (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  18. Biochemical blood test. Level of ALT

    Time frame: Through study completion at 24 months.

    Level of ALT (U/l) is planned to be assessed in patients with dysferlinopathy.

  19. Biochemical blood test. Level of AST

    Time frame: Through study completion at 24 months.

    Level of AST (U/l) is planned to be assessed in patients with dysferlinopathy.

  20. Biochemical blood test. Level of total protein

    Time frame: Through study completion at 24 months.

    Level of total protein (g/l) is planned to be assessed in patients with dysferlinopathy.

  21. Biochemical blood test. Level of CPK

    Time frame: Through study completion at 24 months.

    Level of CPK (U/l) is planned to be assessed in patients with dysferlinopathy.

  22. Biochemical blood test. Level of triglycerides

    Time frame: Through study completion at 24 months.

    Level of triglycerides (mmol/l) is planned to be assessed in patients with dysferlinopathy.

  23. Biochemical blood test. Level of CRP

    Time frame: Through study completion at 24 months.

    Level of CRP (mg/l) is planned to be assessed in patients with dysferlinopathy.

  24. Blood cytokine levels in subjects with dysferlinopathy and healthy volunteers.

    Time frame: Through study completion at 24 months

    • To assess average blood cytokine levels in subjects with dysferlinopathy in various regions of the Russian Federation;
    • To assess average blood cytokine levels in healthy subjects.

    Blood serum cytokine profiling will be performed with the use of the multiparameter fluorescent diagnostic system Luminex 200 and the Bio-Plex Pro Human 27-Plex Panel (Bio-Rad, Hercules, USA) in accordance with the manufacturer's instructions. The data obtained will be processed with the use of MasterPlex CT control and MasterPlex QT analysis software (Hitachi Software, San Bruno, USA).

    The following cytokine Levels will be assessed in the study:FGF2, Eotaxin,G-CSF, GM-CSF, IFN-γ, IL-1β, 1IL-1ra, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-9, IL-10, IL-12 p70, IL-13, IL-15, IL-17, IP-10, MCP-1/MCAF, MIP-1α, MIP-1β,PDGF-BB, RANTES, TNF-α, VEGF.

  25. Autoantibodies in patients with dysferlinopathy.

    Time frame: Through study completion at 24 months

    Assessment of antibodу level against skeletal muscle antigens; an antinuclear factor (ANA), an extractable nuclear antigen.

  26. Muscle MRI in patients with dysferlinopathy.

    Time frame: Through study completion at 24 months.

    • To characterize muscle involvement based on MRI results;
    • To evaluate the progression of muscle involvement based on repeated MRI once year;

  27. Subpopulation compositions of T-lymphocytes in subjects with dysferlinopathy.

    Time frame: Through study completion at 24 months

    • To characterize changes in subpopulation compositions of T-lymphocytes in %.

  28. Subpopulation compositions of B-lymphocytes in subjects with dysferlinopathy.

    Time frame: Through study completion at 24 months

    • To characterize changes in subpopulation compositions of B-lymphocytes in %.

  29. Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (NBT test)

    Time frame: Through study completion at 24 months

    • To characterize changes in phagocytic activity of leukocytes (NBT test in CU).

  30. Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy.

    Time frame: Through study completion at 24 months

    • To characterize changes in phagocytic activity of leukocytes (a phagocyte number in CU).

  31. Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (lysosomal-cation test).

    Time frame: Through study completion at 24 months

    • To characterize changes in phagocytic activity of leukocytes (lysosomal-cation test in CU).

  32. Subpopulation compositions of phagocytic activity of leukocytes (a phagocytic index) in subjects with dysferlinopathy.

    Time frame: Through study completion at 24 months

    • To characterize changes in phagocytic activity of leukocytes (a phagocytic index).

  33. Gait pattern and balance characteristics in patients with limb-girdle muscular dystrophy R2.

    Time frame: Through study completion at 24 months.

    To determine a gait pattern characteristics in patients with limb-girdle muscular dystrophy R2 using electrophysiological techniques (Neurosoft Gait Assessment System "STEDIS").

  34. Cardiac function (assessed by Echocardiography). LV

    Time frame: Through study completion at 24 months.

    The absolute and relative sizes of the left ventricle (LV) index will be determined.

  35. Cardiac function (assessed by Echocardiography). LV mass

    Time frame: Through study completion at 24 months.

    The absolute and relative sizes of the LV mass index will be determined.

  36. Cardiac function (assessed by Echocardiography). Myocardium mass

    Time frame: Through study completion at 24 months.

    The absolute and relative sizes of the myocardium mass index will be determined.

  37. Cardiac function (assessed by Echocardiography). RV

    Time frame: Through study completion at 24 months.

    The absolute and relative sizes of the right ventricle (RV) index will be determined.

  38. Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of LV mass

    Time frame: Through study completion at 24 months.

    Volumetric evaluation of LV mass by manual tracing will be perform. An MRI of the heart will assess fibrosis.

  39. Cardiac function (assessed by Echocardiography). LA

    Time frame: Through study completion at 24 months.

    The absolute and relative sizes of the left atrium (LA) index will be determined

  40. Cardiac function (assessed by Electrocardiography). Outcome 13

    Time frame: Through study completion at 24 months.

    To assess rhythm characteristic, P-wave, QRS, T-wave duration; PR, RR, QT intervals; PR, ST segments.

  41. Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of EF

    Time frame: Through study completion at 24 months.

    Volumetric evaluation of EF by manual tracing will be performed.

  42. Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent).

    Time frame: Through study completion at 24 months.

    Volumetric evaluation of volume by manual tracing will be performed.

  43. Morphological muscle study

    Time frame: Through study completion at 24 months.

    If it was necessary to confirm the causation of mutations in the dysferlin gene, the patients underwent muscle biopsy. To study the expression (immunohistochemistry and western-blotting) and distribution of dysferlin in impaired muscles of subjects with LGMDR2.

Sponsors and collaborators

Lead sponsor

Artgen Biotech

Other

Collaborators

  • Genotarget

Registry information

Official study title

Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation

Acronym: DYSF-RUS

Important dates

Study start
2020
Primary completion
2027
Study completion
2027
First posted
Apr 1, 2021
Registry last updated
Jun 27, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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