Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Dysferlinopathy, Miyoshi Myopathy, LGMDR2, DMAT. Basic parameters: 18 years — 85 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Russia
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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
Overview
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.
Primary outcome measures
- Сlinical status of patients with dysferlinopathy (MMT score) [Time frame: Through study completion at 24 months]
- Сlinical status of patients with dysferlinopathy ( North Star Assessment for dysferlinopathy) [Time frame: Through study completion at 24 months]
- Сlinical status of patients with dysferlinopathy (Hand Held Dynamometry). [Time frame: Through study completion at 24 months]
- Сlinical status of patients with dysferlinopathy (6-minute walk test) [Time frame: Through study completion at 24 months]
- Clinical blood test (level of hemoglobin) [Time frame: Through study completion at 24 months.]
- Clinical blood test. Level of hematocrit [Time frame: Through study completion at 24 months.]
- Clinical blood test. Level of RBC [Time frame: Through study completion at 24 months.]
- Clinical blood test. Level of WBC [Time frame: Through study completion at 24 months.]
- Clinical blood test. Levels of ESR [Time frame: Through study completion at 24 months.]
- Clinical blood test. Level of platelets [Time frame: Through study completion at 24 months.]
Eligibility criteria
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).
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Russia · 1 center
- Human Stem Cells Institute — Moscow
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. PMID 28337173
- Khaiboullina 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. PMID 28487742
- Bardakov 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. PMID 39973465
- Bardakov 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, mou PMID 37553796
- Bardakov 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. PMID 38365661
- Bardakov 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. PMID 35047756
Identifiers
NCT: NCT04824040 · DYSF-Observation (RUS)