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.
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.
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.
Single group
dosage of blood biomarker miR1
Diagnostic testPatients and controls will be asked to provide blood samples to evaluate their blood level of miR1 biomarker on a unique time participation.
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.
Demographic Correlations
The study will analyze the correlation between blood expression levels of miR-1 and the age and sex of the participants
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)
Click on the lead sponsor to view all of their trials.
University Hospital, Clermont-Ferrand
Lead sponsor
iGreD, Université Clermont Auvergne
Collaborator
