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

NCT07415837 | Recruiting

• 2 other identifiers: RBHP 2025 SARRET (Dystro-miR1)2025-A01149-40
• Study Type: interventional
• Target: 104
• Locations: 1 country
• Sites: 1

Brief Summary

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. 1.Patients with Duchenne or Becker muscular dystrophy (DMD/DMB).
2. 2.Patients with Myotonic Dystrophy Type 1 (Steinert's disease).
3. 3.Patients with congenital myopathies.
4. 4.Healthy volunteers (control group). The main objective is to assess if miR-1 levels can accurately show how a muscular disease is progressing.

Conditions

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

Keywords

biomarkers; neuromuscular diseases; micro-RNAs

Outcome Measures

Primary Outcomes (1)

• 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.

  at a unique time of enrollment

Secondary Outcomes (2)

• Demographic Correlations

  at a unique time of enrollment

• Severity correlation

  at a unique time of enrollment

Study Arms (1)

study group

EXPERIMENTAL

Diagnostic Test: dosage of blood biomarker miR1

Interventions

dosage of blood biomarker miR1 DIAGNOSTIC_TEST

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

study group

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Clermont-Ferrand: lead
• iGreD, Université Clermont Auvergne: collaborator

Study Sites (1)

CHU de Clermont-Ferrand

Clermont-Ferrand, France

RECRUITING

Related Publications (11)

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• Lagos-Quintana M, Rauhut R, Yalcin A, Meyer J, Lendeckel W, Tuschl T. Identification of tissue-specific microRNAs from mouse. Curr Biol. 2002 Apr 30;12(9):735-9. doi: 10.1016/s0960-9822(02)00809-6.

  PMID: 12007417 BACKGROUND

• Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N. Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol. 2011 Jun 19;18(7):840-5. doi: 10.1038/nsmb.2067.

  PMID: 21685920 BACKGROUND

• Mendell JT. MicroRNAs: critical regulators of development, cellular physiology and malignancy. Cell Cycle. 2005 Sep;4(9):1179-84. doi: 10.4161/cc.4.9.2032. Epub 2005 Sep 15.

  PMID: 16096373 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Myotonic Dystrophy; Myotonia Congenita; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Catherine Sarret, MD, PhD, Prof

  CHU de Clermont-Ferrand

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lise Laclautre, PhD

CONTACT

+33473750750; promo_interne_drci@chu-clermontferrand.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 10, 2026
• First Posted: February 17, 2026
• Study Start: February 11, 2026
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): March 1, 2029
• Last Updated: February 25, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)