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

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

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.

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