Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b.
Michael A Lopez, Ying Si, Xianzhen Hu...
https://pubmed.ncbi.nlm.nih.gov/35886863Actively Recruiting
Phase Not Applicable
Age: 2Years +
All Genders
Healthy Volunteers
ID07415837
Evaluation of the Role of miR-1 as a Biomarker in Muscular Dystrophies and Congenital Myopathies
Led by University Hospital, Clermont-Ferrand · Updated on 2026-02-25
104
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University Hospital, Clermont-Ferrand
Lead Sponsor
I
iGreD, Université Clermont Auvergne
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating whether a specific blood molecule called miR-1 can serve as a biomarker to monitor the health and progression of certain muscle diseases. This study focuses on patients with Duchenne or Becker muscular dystrophy, Myotonic Dystrophy Type 1 (Steinert's disease), congenital myopathies, and healthy volunteers as a comparison group. The goal is to better understand how miR-1 levels relate to disease severity and progression. Participants will provide a single blood sample to measure the level of miR-1 in their blood. This diagnostic test is done once at enrollment to compare miR-1 levels across the different groups and disease types. No other interventions or treatments are part of the study. During the study, participants will undergo demographic and severity assessments at the time of their blood draw. Researchers will analyze the blood expression level of miR-1 and its correlation with the participants' age and disease severity. The study will continue until March 2029, and participants are involved only for the single blood sampling visit.
CONDITIONS
Brief Title
Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
Who Can Participate
Age: 2Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Participants must be older than 2 years of age
- Participants or their legal guardians must provide free and informed consent
- Participants must be affiliated with the French social security system
- Participants must have a diagnosed neuromuscular disease: Myotonic Dystrophy Type 1, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, congenital myopathies, or be healthy volunteers
You will not qualify if you...
- Refusal to participate by the participant or their legal guardians
- Intense or unusual physical effort within 10 days prior to blood draw
- Current treatment affecting muscles, heart, or systemic functions that could interfere with study results
- Participants under tutelage, curatorship, deprived of liberty, or judicial protection
- Women who are pregnant or breastfeeding
- Presence of another illness that could interfere with biological findings as judged by the clinician
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Single time point
Participants provide a blood sample to evaluate their blood level of the miR-1 biomarker at a single time point during enrollment.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
CHU de Clermont-Ferrand
Clermont-Ferrand, France
Actively Recruiting
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Research Team
L
Lise Laclautre, PhD
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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Published Research Related To This Trial
Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1.
Anissa Souidi, Monika Zmojdzian, Krzysztof Jagla
https://pubmed.ncbi.nlm.nih.gov/30567354Distinctive serum miRNA profile in mouse models of striated muscular pathologies.
Nicolas Vignier, Fatima Amor, Paul Fogel...
https://pubmed.ncbi.nlm.nih.gov/23418438Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.
Yasunari Matsuzaka, Soichiro Kishi, Yoshitsugu Aoki...
https://pubmed.ncbi.nlm.nih.gov/25150707Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.
Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto...
https://pubmed.ncbi.nlm.nih.gov/24282529The role of microRNAs in skeletal muscle health and disease.
Tyler J Kirby, Thomas Chaillou, John J McCarthy
https://pubmed.ncbi.nlm.nih.gov/25553440Estimating the sample mean and standard deviation from the sample size, median, range and/or interquartile range.
Xiang Wan, Wenqian Wang, Jiming Liu...
https://pubmed.ncbi.nlm.nih.gov/25524443Causes and consequences of microRNA dysregulation in cancer.
Carlo M Croce
https://pubmed.ncbi.nlm.nih.gov/19763153Identification of tissue-specific microRNAs from mouse.
Mariana Lagos-Quintana, Reinhard Rauhut, Abdullah Yalcin...
https://pubmed.ncbi.nlm.nih.gov/12007417Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.
Frédérique Rau, Fernande Freyermuth, Charlotte Fugier...
https://pubmed.ncbi.nlm.nih.gov/21685920