DysferlinopathyDYSF-RUSNCT04824040
Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
An observational study of Dysferlinopathy and Miyoshi Myopathy, run by Artgen Biotech at 1 site in Russia.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Dysferlinopathy, Miyoshi Myopathy, LGMDR2
- How many people
- 100 participants
- Where
- 1 siteRussia
- Study dates
- 15 Jan 2020to Jul 2027
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Study participants will be identified through self-selection and direct recruitment options. Participants will be identified from the population of individuals who are followed at the neuromuscular clinics. Participants will also be solicited from the DYSF Russian registry.
Who may be able to join
- 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)
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official 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
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.
Read the 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:
- Subject enrollment - 24 months
- Data collection and analysis - 12 months
- Study Report - 30 days.
- Conditions
- Dysferlinopathy, Miyoshi Myopathy, LGMDR2, DMAT
- Keywords
- LGMDR2, Miyoshi Myopathy, Dysferlinopathy, DYSF, DMAT
- Medical subject headings
- Dysferlinopathy, Miyoshi myopathy, Limb-girdle muscular dystrophy, type 2B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Study group | Patients with a genetically confirmed dysferlinopathy. | |
| Control group | Healthy Volunteers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Сlinical status of patients with dysferlinopathy (MMT score)
Muscle strength will be assessed using MMT and will be expressed in points for each of the muscle groups assessed.
Measured: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy ( North Star Assessment for dysferlinopathy)
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).
Measured: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (Hand Held Dynamometry).
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.
Measured: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (6-minute walk test)
The participant will be asked to complete maximal distance in 6 minet as quickly as safely possible and the time in seconds is recorded.
Measured: Through study completion at 24 months
Clinical blood test (level of hemoglobin)
Level of hemoglobin is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Clinical blood test. Level of hematocrit
Level of hematocrit (%) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Clinical blood test. Level of RBC
Level of RBC is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Clinical blood test. Level of WBC
Level of WBC is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Clinical blood test. Levels of ESR
Levels of ESR (mm/h) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Clinical blood test. Level of platelets
Level of platelets is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test.
Levels of potassium (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months
Biochemical blood test. Level of sodium
Level of sodium (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of calcium
Level of calcium (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of creatinine
Level of creatinine (μmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of glucose
Level of glucose (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of uric acid
Level of uric acid (μmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of urea
Level of urea (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of ALT
Level of ALT (U/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of AST
Level of AST (U/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of total protein
Level of total protein (g/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of CPK
Level of CPK (U/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of triglycerides
Level of triglycerides (mmol/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Biochemical blood test. Level of CRP
Level of CRP (mg/l) is planned to be assessed in patients with dysferlinopathy.
Measured: Through study completion at 24 months.
Blood cytokine levels in subjects with dysferlinopathy and healthy volunteers.
- 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.
Measured: Through study completion at 24 months
Autoantibodies in patients with dysferlinopathy.
Assessment of antibodу level against skeletal muscle antigens; an antinuclear factor (ANA), an extractable nuclear antigen.
Measured: Through study completion at 24 months
Muscle MRI in patients with dysferlinopathy.
- To characterize muscle involvement based on MRI results;
- To evaluate the progression of muscle involvement based on repeated MRI once year;
Measured: Through study completion at 24 months.
Subpopulation compositions of T-lymphocytes in subjects with dysferlinopathy.
- To characterize changes in subpopulation compositions of T-lymphocytes in %.
Measured: Through study completion at 24 months
Subpopulation compositions of B-lymphocytes in subjects with dysferlinopathy.
- To characterize changes in subpopulation compositions of B-lymphocytes in %.
Measured: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (NBT test)
- To characterize changes in phagocytic activity of leukocytes (NBT test in CU).
Measured: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy.
- To characterize changes in phagocytic activity of leukocytes (a phagocyte number in CU).
Measured: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (lysosomal-cation test).
- To characterize changes in phagocytic activity of leukocytes (lysosomal-cation test in CU).
Measured: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes (a phagocytic index) in subjects with dysferlinopathy.
- To characterize changes in phagocytic activity of leukocytes (a phagocytic index).
Measured: Through study completion at 24 months
Gait pattern and balance characteristics in patients with limb-girdle muscular dystrophy R2.
To determine a gait pattern characteristics in patients with limb-girdle muscular dystrophy R2 using electrophysiological techniques (Neurosoft Gait Assessment System "STEDIS").
Measured: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV
The absolute and relative sizes of the left ventricle (LV) index will be determined.
Measured: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV mass
The absolute and relative sizes of the LV mass index will be determined.
Measured: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). Myocardium mass
The absolute and relative sizes of the myocardium mass index will be determined.
Measured: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). RV
The absolute and relative sizes of the right ventricle (RV) index will be determined.
Measured: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of LV mass
Volumetric evaluation of LV mass by manual tracing will be perform. An MRI of the heart will assess fibrosis.
Measured: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LA
The absolute and relative sizes of the left atrium (LA) index will be determined
Measured: Through study completion at 24 months.
Cardiac function (assessed by Electrocardiography). Outcome 13
To assess rhythm characteristic, P-wave, QRS, T-wave duration; PR, RR, QT intervals; PR, ST segments.
Measured: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of EF
Volumetric evaluation of EF by manual tracing will be performed.
Measured: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent).
Volumetric evaluation of volume by manual tracing will be performed.
Measured: Through study completion at 24 months.
Morphological muscle study
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.
Measured: Through study completion at 24 months.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2021
- Study start15 Jan 2020
- Primary completion25 Feb 2027 (estimated)
- Study completionJul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for DysferlinopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Artgen Biotech
- Sponsor type
- University, hospital or other
- Collaborators
- Genotarget
- Responsible party
- Sponsor
- Investigators
- Roman Deev, PhD, Study chair, HSCI, Russia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04824040
- Sponsor's protocol ID
- DYSF-Observation (RUS)
- Acronym
- DYSF-RUS
- Status last verified
- Jun 2025
- First submitted
- 16 Feb 2021
- Last updated
- 27 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Umakhanova ZR, Bardakov SN, Mavlikeev MO, Chernova ON, Magomedova RM, Akhmedova PG, Yakovlev IA, Dalgatov GD, Fedotov VP, Isaev AA, Deev RV. Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. Front Neurol. 2017 Mar 8;8:77. doi: 10.3389/fneur.2017.00077. eCollection 2017.
PubMed 28337173Khaiboullina SF, Martynova EV, Bardakov SN, Mavlikeev MO, Yakovlev IA, Isaev AA, Deev RV, Rizvanov AA. Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. Case Rep Med. 2017;2017:3615354. doi: 10.1155/2017/3615354. Epub 2017 Apr 13.
PubMed 28487742Bardakov SN, Deev RV, Tsargush VA, Kaimonov VS, Musatova EV, Blagodatskikh KA, Tveleneva AA, Sofronova YV, Suslov VM, Carlier PG, Kurbatov SA, Yakovlev IA, Umakhanova ZR, Isaev AA. Asymptomatic and oligosymptomatic states of dysferlinopathy. J Neuromuscul Dis. 2024 Nov;11(6):1283-1294. doi: 10.1177/22143602241289227. Epub 2024 Dec 8.
PubMed 39973465Bardakov SN, Deev RV, Isaev capital A, Cyrilliccapital A, Cyrillic, Khromov-Borisov NN, Kopylov ED, Savchuk capital EM, CyrillicR, Pushkin MS, Presnyakov EV, Magomedova RM, Achmedova PG, Umakhanova ZR, Kaimonov VS, Musatova EV, Blagodatskikh Kcapital A, Cyrillic, Tveleneva Acapital A, Cyrillic, Sofronova YV, Yakovlev IA. Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan. Mol Genet Genomic Med. 2023 Oct;11(10):e2236. doi: 10.1002/mgg3.2236. Epub 2023 Aug 8.
PubMed 37553796Bardakov SN, Titova AA, Nikitin SS, Nikitins V, Sokolova MO, Tsargush VA, Yuhno EA, Vetrovoj OV, Carlier PG, Sofronova YV, Isaev capital A, Cyrilliccapital A, Cyrillic, Deev RV. Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report. BMC Musculoskelet Disord. 2024 Feb 16;25(1):146. doi: 10.1186/s12891-024-07270-y.
PubMed 38365661Bardakov SN, Tsargush VA, Carlier PG, Nikitin SS, Kurbatov SA, Titova AA, Umakhanova ZR, Akhmedova PG, Magomedova RM, Zheleznyak IS, Emelyantsev AA, Berezhnaya EN, A Yakovlev I, Isaev AA, Deev RV. Magnetic resonance imaging pattern variability in dysferlinopathy. Acta Myol. 2021 Dec 31;40(4):158-171. doi: 10.36185/2532-1900-059. eCollection 2021 Dec.
PubMed 35047756
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT04824040
- Acronym / sponsor ID
- DYSF-RUS / DYSF-Observation (RUS)
- Conditions
- Dysferlinopathy, Miyoshi Myopathy, LGMDR2, DMAT
- Keywords
- LGMDR2, Miyoshi Myopathy, Dysferlinopathy, DYSF, DMAT
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Artgen BiotechUniversity, hospital or other
- Collaborators
- Genotarget
- Study start
- 15 Jan 2020 (actual)
- Primary completion
- 25 Feb 2027 (estimated)
- Study completion
- Jul 2027 (estimated)
- First posted
- 1 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Subject enrollment - 24 months
- Data collection and analysis - 12 months
- Study Report - 30 days.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Study group | – | –Patients with a genetically confirmed dysferlinopathy. |
| Control group | – | –Healthy Volunteers |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Study participants will be identified through self-selection and direct recruitment options. Participants will be identified from the population of individuals who are followed at the neuromuscular clinics. Participants will also be solicited from the DYSF Russian registry.
Key inclusion criteria (3 listed)
- 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)
Key exclusion criteria (3 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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;
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 %.
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 %.
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).
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).
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).
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).
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").
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.
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.
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.
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.
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.
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
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.
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2025.
- Background: PubMed 28337173Umakhanova ZR, Bardakov SN, Mavlikeev MO, Chernova ON, Magomedova RM, Akhmedova PG, Yakovlev IA, Dalgatov GD, Fedotov VP, Isaev AA, Deev RV. Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. Front Neurol. 2017 Mar 8;8:77. doi: 10.3389/fneur.2017.00077. eCollection 2017.
- Background: PubMed 28487742Khaiboullina SF, Martynova EV, Bardakov SN, Mavlikeev MO, Yakovlev IA, Isaev AA, Deev RV, Rizvanov AA. Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. Case Rep Med. 2017;2017:3615354. doi: 10.1155/2017/3615354. Epub 2017 Apr 13.
- Results publication: PubMed 39973465Bardakov SN, Deev RV, Tsargush VA, Kaimonov VS, Musatova EV, Blagodatskikh KA, Tveleneva AA, Sofronova YV, Suslov VM, Carlier PG, Kurbatov SA, Yakovlev IA, Umakhanova ZR, Isaev AA. Asymptomatic and oligosymptomatic states of dysferlinopathy. J Neuromuscul Dis. 2024 Nov;11(6):1283-1294. doi: 10.1177/22143602241289227. Epub 2024 Dec 8.
- Results publication: PubMed 37553796Bardakov SN, Deev RV, Isaev capital A, Cyrilliccapital A, Cyrillic, Khromov-Borisov NN, Kopylov ED, Savchuk capital EM, CyrillicR, Pushkin MS, Presnyakov EV, Magomedova RM, Achmedova PG, Umakhanova ZR, Kaimonov VS, Musatova EV, Blagodatskikh Kcapital A, Cyrillic, Tveleneva Acapital A, Cyrillic, Sofronova YV, Yakovlev IA. Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan. Mol Genet Genomic Med. 2023 Oct;11(10):e2236. doi: 10.1002/mgg3.2236. Epub 2023 Aug 8.
- Results publication: PubMed 38365661Bardakov SN, Titova AA, Nikitin SS, Nikitins V, Sokolova MO, Tsargush VA, Yuhno EA, Vetrovoj OV, Carlier PG, Sofronova YV, Isaev capital A, Cyrilliccapital A, Cyrillic, Deev RV. Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report. BMC Musculoskelet Disord. 2024 Feb 16;25(1):146. doi: 10.1186/s12891-024-07270-y.
- Results publication: PubMed 35047756Bardakov SN, Tsargush VA, Carlier PG, Nikitin SS, Kurbatov SA, Titova AA, Umakhanova ZR, Akhmedova PG, Magomedova RM, Zheleznyak IS, Emelyantsev AA, Berezhnaya EN, A Yakovlev I, Isaev AA, Deev RV. Magnetic resonance imaging pattern variability in dysferlinopathy. Acta Myol. 2021 Dec 31;40(4):158-171. doi: 10.36185/2532-1900-059. eCollection 2021 Dec.
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Active, not recruitingObservational study
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Roman Deev, PhD study chair
HSCI, Russia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dysferlinopathy and Miyoshi Myopathy, run by Artgen Biotech at 1 site in Russia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Сlinical status of patients with dysferlinopathy (MMT score) (time frame: Through study completion at 24 months). The study lists 43 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04824040, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jun 2025.