Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies (biodystromirs)
Primary Purpose
Muscular Dystrophies, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
blood sample
Sponsored by
About this trial
This is an interventional health services research trial for Muscular Dystrophies focused on measuring muscle dystrophies, dystromirs, longitudinal study, miRNA
Eligibility Criteria
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,
Sites / Locations
- Montpellier HospitalRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
cohort
Arm Description
blood sample : doage of miRNA
Outcomes
Primary Outcome Measures
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)
Secondary Outcome Measures
severity of the dystrophinopathy
to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy
progression of the disease
to investigate the relationship between circulating levels of these miRNAs and the progression of the disease
specificitiy of miRNA for distrophinopathy
to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy)
Full Information
NCT ID
NCT02109692
First Posted
April 2, 2014
Last Updated
May 9, 2018
Sponsor
University Hospital, Montpellier
1. Study Identification
Unique Protocol Identification Number
NCT02109692
Brief Title
Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
Acronym
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
Study Type
Interventional
2. Study Status
Record Verification Date
May 2018
Overall Recruitment Status
Unknown status
Study Start Date
May 19, 2014 (Actual)
Primary Completion Date
November 2018 (Anticipated)
Study Completion Date
November 2019 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Montpellier
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophies, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Keywords
muscle dystrophies, dystromirs, longitudinal study, miRNA
7. Study Design
Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
186 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
cohort
Arm Type
Other
Arm Description
blood sample : doage of miRNA
Intervention Type
Other
Intervention Name(s)
blood sample
Intervention Description
dosage of miRNA
Primary Outcome Measure Information:
Title
Quantity of serum muscle-derived microRNAs of DMD patients
Description
To validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects)
Time Frame
up to 12 months
Secondary Outcome Measure Information:
Title
severity of the dystrophinopathy
Description
to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy
Time Frame
up to 36 months
Title
progression of the disease
Description
to investigate the relationship between circulating levels of these miRNAs and the progression of the disease
Time Frame
up to 36 months
Title
specificitiy of miRNA for distrophinopathy
Description
to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy)
Time Frame
up to 36 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Months
Maximum Age & Unit of Time
80 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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,
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Mireille Cossee, MD-PhD
Phone
0033 4 11 75 98 79
Email
mireille.cosse@inserm.com
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Francois Rivier, PU-PH
Organizational Affiliation
University Hospital, Montpellier
Official's Role
Principal Investigator
Facility Information:
Facility Name
Montpellier Hospital
City
Montpellier
ZIP/Postal Code
34395
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Francois Rivier, Professor
12. IPD Sharing Statement
Learn more about this trial
Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
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