Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies

Study Overview
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Brief Summary
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Duchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child. Although the development is rapidly progressive , there is variability in the severity of the disease between DMD patients that do not correlate with the type of mutations in the DMD gene. There are no easily measurable biomarkers for monitoring the DMD or moderate form of the disease, Becker muscular dystrophy (BMD ) . MicroRNAs (miRNAs) are involved in most cellular processes , and their expression pattern is a signature of the state of a cell . They represent a potential class of diagnostic and prognostic biomarkers. Some are specific for the skeletal myogenesis , and changes in their pattern of expression are associated with muscle diseases including muscular dystrophy. The levels of muscle- specific miRNAs are indeed greatly increased in the serum of DMD and BMD compared to control patients . The main objective of this is to validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects). Secondary objectives are i) to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy (DMD vs BMD) and also the progression of the disease (longitudinal study), ii) to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy), iii) to test candidate miRNAs recently identified but not yet analyzed in the serum of patients. Clinical data and samples will be recorded at each regular consultation. miRNA levels will be quantified using Real Time Quantitative RT-PCR.

Official Title
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Quantification of Muscle Specific microRNAs in the Serum of Patients With Duchenne Muscular Dystrophy (DMD) and Becker (BMD) : Evaluation of the Inters-est of These Biomarkers in Patients Care

Conditions
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Muscular Dystrophies, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy

Intervention / Treatment
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* Other: blood sample


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient suffers from dystrophinopathy or other muscle dystrophy, Healthy volunteers signed informed consent social insurance Exclusion Criteria: patients or parents have not signed the informed consent,

Ages Eligible for Study
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Minimum Age: 18 Months
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Health Services Research
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: cohort<br>blood sample : doage of miRNA | Other: blood sample<br>* dosage of miRNA<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantity of serum muscle-derived microRNAs of DMD patients | To validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects) | up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| severity of the dystrophinopathy | to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy | up to 36 months | 
| progression of the disease | to investigate the relationship between circulating levels of these miRNAs and the progression of the disease | up to 36 months | 
| specificitiy of miRNA for distrophinopathy | to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy) | up to 36 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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muscle dystrophies, dystromirs, longitudinal study, miRNA