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| ID | Type | Description | Link |
|---|---|---|---|
| 2025-A01149-40 | Other Identifier | 2025-A01149-40 |
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| Name | Class |
|---|---|
| iGreD, Université Clermont Auvergne | UNKNOWN |
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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| study group | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Demographic Correlations | The study will analyze the correlation between blood expression levels of miR-1 and the age and sex of the participants | at a unique time of enrollment |
| Severity correlation |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lise Laclautre, PhD | Contact | +33473750750 | promo_interne_drci@chu-clermontferrand.fr |
| Name | Affiliation | Role |
|---|---|---|
| Catherine Sarret, MD, PhD, Prof | University Hospital, Clermont-Ferrand | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de Clermont-Ferrand | Recruiting | Clermont-Ferrand | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35886863 | Background | 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. | |
| 30567354 | 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. |
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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)
| at a unique time of enrollment |
| 23418438 | 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. |
| 25150707 | 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. |
| 24282529 | 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. |
| 25553440 | 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. |
| 25524443 | 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. |
| 19763153 | Background | Croce CM. Causes and consequences of microRNA dysregulation in cancer. Nat Rev Genet. 2009 Oct;10(10):704-14. doi: 10.1038/nrg2634. |
| 12007417 | 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. |
| 21685920 | 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. |
| 16096373 | 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. |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009223 | Myotonic Dystrophy |
| D009224 | Myotonia Congenita |
| D009468 | Neuromuscular Diseases |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
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