Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies (biodystromirs)

May 9, 2018 updated by: University Hospital, Montpellier

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

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

186

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Montpellier, France, 34395
        • Recruiting
        • Montpellier Hospital
        • Contact:
          • Francois Rivier, Professor

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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,

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: cohort
blood sample : doage of miRNA
Other: blood sample
dosage of miRNA

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
up to 12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
up to 36 months
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
up to 36 months
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)
up to 36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Investigators

  • Principal Investigator: Francois Rivier, PU-PH, University Hospital, Montpellier

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 19, 2014

Primary Completion (Anticipated)

November 1, 2018

Study Completion (Anticipated)

November 1, 2019

Study Registration Dates

First Submitted

April 2, 2014

First Submitted That Met QC Criteria

April 7, 2014

First Posted (Estimate)

April 10, 2014

Study Record Updates

Last Update Posted (Actual)

May 15, 2018

Last Update Submitted That Met QC Criteria

May 9, 2018

Last Verified

May 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 9184

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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