Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies (biodystromirs)
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|ClinicalTrials.gov Identifier: NCT02109692|
Recruitment Status : Recruiting
First Posted : April 10, 2014
Last Update Posted : January 9, 2015
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.
|Condition or disease||Intervention/treatment|
|Dystrophinopathies, Muscular Dystrophies||Other: blood sample|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||186 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Primary Purpose:||Health Services Research|
|Official Title:||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|
|Study Start Date :||May 2014|
|Estimated Primary Completion Date :||November 2017|
|Estimated Study Completion Date :||May 2018|
blood sample : doage of miRNA
Other: blood sample
dosage of miRNA
- Quantity of serum muscle-derived microRNAs of DMD patients [ Time Frame: up to 12 months ]To validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects)
- severity of the dystrophinopathy [ Time Frame: up to 36 months ]to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy
- progression of the disease [ Time Frame: up to 36 months ]to investigate the relationship between circulating levels of these miRNAs and the progression of the disease
- specificitiy of miRNA for distrophinopathy [ Time Frame: up to 36 months ]to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy)
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02109692
|Contact: Mireille Cossee, MD-PhD||0033 4 11 75 98 email@example.com|
|Montpellier, France, 34395|
|Contact: Francois Rivier, Professor|
|Principal Investigator:||Francois Rivier, PU-PH||University Hospital, Montpellier|