NCT04824040

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

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

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Artgen Biotech · Academic / Other
• Sex: All
• Age: 18 Years – 85 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed description

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: 1. Subject enrollment - 24 months 2. Data collection and analysis - 12 months 3. Study Report - 30 days.

Conditions

• Dysferlinopathy
• Miyoshi Myopathy
• LGMDR2
• DMAT

Timeline

• Start date: 2020-01-15
• Primary completion: 2027-02-25
• Completion: 2027-07-01
• First posted: 2021-04-01
• Last updated: 2025-06-27

Locations

1 site across 1 country: Russia