Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies

Duchenne Muscular Dystrophy Clinical Trial

— biodystromirs  

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02109692
• Other study ID #: 9184
• Status: Recruiting
• Phase: N/A
• Start date: May 19, 2014
• Est. completion date: November 2019

Study information

• Verified date: May 2018
• Source: University Hospital, Montpellier
• Contact: Mireille Cossee, MD-PhD
• Phone: 0033 4 11 75 98 79
• Email: mireille.cosse[@]inserm.com
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 186
• Est. completion date: November 2019
• Est. primary completion date: November 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Months to 80 Years

Eligibility

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,

Related Conditions & MeSH terms

• Becker Muscular Dystrophy
• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Intervention

Other:
• blood sample
dosage of miRNA

Locations

Country	Name	City	State
France	Montpellier Hospital	Montpellier

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	severity of the dystrophinopathy	to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy	up to 36 months
Secondary	progression of the disease	to investigate the relationship between circulating levels of these miRNAs and the progression of the disease	up to 36 months
Secondary	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