Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies

NCT02109692 | Unknown DMC

• 1 other identifier: 9184
• Study Type: interventional
• Target: 186
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Muscular Dystrophies; Becker Muscular Dystrophy; Duchenne Muscular Dystrophy

Keywords

muscle dystrophies; dystromirs; longitudinal study; miRNA

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• severity of the dystrophinopathy

  up to 36 months

• progression of the disease

  up to 36 months

• specificitiy of miRNA for distrophinopathy

  up to 36 months

Study Arms (1)

cohort

OTHER

blood sample : doage of miRNA

Other: blood sample

Interventions

blood sample OTHER

dosage of miRNA

cohort

Eligibility Criteria

• Age: 18 Months - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient suffers from dystrophinopathy or other muscle dystrophy,
• Healthy volunteers
• signed informed consent
• social insurance

You may not qualify if:

• patients or parents have not signed the informed consent,

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Montpellier Hospital

Montpellier, 34395, France

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophies; Muscular Dystrophy, Duchenne

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Francois Rivier, PU-PH

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mireille Cossee, MD-PhD

CONTACT

0033 4 11 75 98 79; mireille.cosse@inserm.com

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 2, 2014
• First Posted: April 10, 2014
• Study Start: May 19, 2014
• Primary Completion: November 1, 2018
• Study Completion: November 1, 2019
• Last Updated: May 15, 2018

Record last verified: 2018-05

Locations

FR (1)