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

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.

Interventions

• Diagnostic test dosage of blood biomarker miR1
  Patients and controls will be asked to provide blood samples to evaluate their blood level of miR1 biomarker on a unique time participation.

Primary outcome measures

• blood expression level of micro-RNA miR-1 [Time frame: at a unique time of enrollment]

Secondary outcome measures (2)

• Demographic Correlations [Time frame: at a unique time of enrollment]
• Severity correlation [Time frame: at a unique time of enrollment]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Allocation

N/A

Model

Single group

Masking

Open label

Primary purpose

Diagnostic

Study locations

France · 1 center

• CHU de Clermont-Ferrand — Clermont-Ferrand

Publications

• Lopez MA, Si Y, Hu X, Williams V, Qushair F, Carlyle J, Alesce L, Conklin M, Gilbert S, Bamman MM, Alexander MS, King PH. Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b. Int J Mol Sci. 2022 Jul 7;23(14):7515. doi: 10.3390/ijms23147515. PMID 35886863
• Souidi A, Zmojdzian M, Jagla K. Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. Int J Mol Sci. 2018 Dec 18;19(12):4104. doi: 10.3390/ijms19124104. PMID 30567354
• Vignier N, Amor F, Fogel P, Duvallet A, Poupiot J, Charrier S, Arock M, Montus M, Nelson I, Richard I, Carrier L, Servais L, Voit T, Bonne G, Israeli D. Distinctive serum miRNA profile in mouse models of striated muscular pathologies. PLoS One. 2013;8(2):e55281. doi: 10.1371/journal.pone.0055281. Epub 2013 Feb 13. PMID 23418438
• Matsuzaka Y, Kishi S, Aoki Y, Komaki H, Oya Y, Takeda S, Hashido K. Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy. Environ Health Prev Med. 2014 Nov;19(6):452-8. doi: 10.1007/s12199-014-0405-7. Epub 2014 Aug 24. PMID 25150707
• Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One. 2013 Nov 25;8(11):e80263. doi: 10.1371/journal.pone.0080263. eCollection 2013. PMID 24282529
• Kirby TJ, Chaillou T, McCarthy JJ. The role of microRNAs in skeletal muscle health and disease. Front Biosci (Landmark Ed). 2015 Jan 1;20(1):37-77. doi: 10.2741/4298. PMID 25553440
• Wan X, Wang W, Liu J, Tong T. Estimating the sample mean and standard deviation from the sample size, median, range and/or interquartile range. BMC Med Res Methodol. 2014 Dec 19;14:135. doi: 10.1186/1471-2288-14-135. PMID 25524443
• Croce CM. Causes and consequences of microRNA dysregulation in cancer. Nat Rev Genet. 2009 Oct;10(10):704-14. doi: 10.1038/nrg2634. PMID 19763153

Identifiers

NCT: NCT07415837 · RBHP 2025 SARRET (Dystro-miR1) · 2025-A01149-40

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗