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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

Recruiting
2 years and older
All
Phase N/A

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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.

Eligibility

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

Study details
    Duchenne / Becker Muscular Dystrophy
    Dystrophia Myotonica 1
    Congenital Myopathies
    Healthy Participants

NCT07415837

University Hospital, Clermont-Ferrand

14 May 2026

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