Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies

N/ANot Yet RecruitingNCT07415837

University Hospital, Clermont-Ferrand104 enrolled

Overview

The study aims to find out if a specific blood molecule called miR-1, can be used as a biomarker to track the health of patients with certain muscle diseases. MicroRNAs (miRs) are small messengers that help control how cells grow and stay healthy. Some of these, like miR-1, are specifically found in muscles and the heart. Research shows that levels of miR-1 are often abnormal in people with muscle-wasting conditions, but more information are needed to understand how this relates to the severity of the disease. The main goal is to compare the blood levels of miR-1 between four different groups at different ages and severities: 1. Patients with Duchenne or Becker muscular dystrophy (DMD/DMB). 2. Patients with Myotonic Dystrophy Type 1 (Steinert's disease). 3. Patients with congenital myopathies. 4. Healthy volunteers (control group). The main objective is to assess if miR-1 levels can accurately show how a muscular disease is progressing.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

104

Conditions

Duchenne / Becker Muscular Dystrophy Dystrophia Myotonica 1 Congenital Myopathies

Eligibility

Sex: ALLMin age: 2 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Age: Participants must be older than 2 years of age * Consent: Participants (or their legal guardians) must provide free and informed consent,. For children, the consent is oral for those under 6 years old and written for those over 6,. * Social Security: Every participant must be affiliated with the French social security system. * Participants must have a diagnosed neuromuscular pathology : the eligible pathologies are Myotonic Dystrophy Type 1 (DM1 or Steinert's disease), Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMB), or congenital myopathies or are healthy participants. Exclusion Criteria: * Refusal to participate expressed by the subject or their parental authority. * Engaging in intense and unusual physical effort within 10 days before the blood draw. * Current use of any treatment with systemic, muscular, or cardiac effects that could interfere with the study's biological results. * Subjects or their legal guardians who are under tutelage, curatorship, deprived of liberty, or under judicial protection. * Women who are pregnant or breastfeeding. * The presence of an additional pathology that, in the judgment of the clinician, could interfere with the biological findings

Outcomes

Primary Outcomes

blood expression level of micro-RNA miR-1

The main goal is to evaluate the interest of miR-1 as a blood biomarker for neuromuscular diseases, specifically muscular dystrophies and congenital myopathies.

Time frame: at a unique time of enrollment

Secondary Outcomes

Demographic Correlations

The study will analyze the correlation between blood expression levels of miR-1 and the age and sex of the participants

Time frame: at a unique time of enrollment

Severity correlation

the study will analyse the correlation between miR-1 levels and the clinical severity of the neuromuscular condition. Severity of Myotonic Dystrophy Type 1 (DM1): miR-1 level relation to the severity of the condition, looking at: * The clinical phenotype (based on the age of disease onset). * The number of CTG nucleotide repeats in the DMPK gene,. * The presence of cardiac involvement,. • Severity of Duchenne and Becker Muscular Dystrophies (DMD/DMB): miR-1 levels based on: * The presence of cardiac involvement, * The loss of ambulation (whether the patient has lost the ability to walk)

Time frame: at a unique time of enrollment

Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts