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

Launched by ARTGEN BIOTECH · Mar 26, 2021

Keywords

ClinConnect Summary

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 ...

Gender

ALL

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).