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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
Sponsor:
Information provided by (Responsible Party):

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.


Condition or disease Intervention/treatment
Dystrophinopathies, Muscular Dystrophies Other: blood sample

Study Design

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


Arms and Interventions

Arm Intervention/treatment
cohort
blood sample : doage of miRNA
Other: blood sample
dosage of miRNA


Outcome Measures

Primary Outcome Measures :
  1. 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)


Secondary Outcome Measures :
  1. 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

  2. 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

  3. 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)


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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,
Contacts and Locations

Information from the National Library of Medicine

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


Contacts
Contact: Mireille Cossee, MD-PhD 0033 4 11 75 98 79 mireille.cosse@inserm.com

Locations
France
Montpellier Hospital Recruiting
Montpellier, France, 34395
Contact: Francois Rivier, Professor         
Sponsors and Collaborators
University Hospital, Montpellier
Investigators
Principal Investigator: Francois Rivier, PU-PH University Hospital, Montpellier
More Information

Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT02109692     History of Changes
Other Study ID Numbers: 9184
First Posted: April 10, 2014    Key Record Dates
Last Update Posted: January 9, 2015
Last Verified: January 2015

Keywords provided by University Hospital, Montpellier:
dystrophinopathies
muscle dystrophies
dystromirs
longitudinal study
miRNA

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn