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

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age2+
SponsorUniversity Hospital, Clermont-Ferrand

About this trial

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 criteria

Qualifiers

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.

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • dosage of blood biomarker miR1

Treatment groups

104 Participants
are divided into 1 treatment group

Sponsors and collaborators

University Hospital, Clermont-Ferrand

Lead sponsor

iGreD, Université Clermont Auvergne

Collaborator