Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy

February 6, 2020 updated by: University Hospital, Montpellier

Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).

Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence.

Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1).

Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD.

The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

50

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
      • Bordeaux, France, 33076
      • Lille, France, 59037
      • Montpellier, France, 34295
        • Recruiting
        • Montpellier University Hospital
        • Contact:
        • Principal Investigator:
          • François RIVIER, PU PH
        • Sub-Investigator:
          • Stefan Matecki, PU PH
        • Sub-Investigator:
          • Pierre Meyer, PH
        • Sub-Investigator:
          • Ulrike Walther-Louvier, PH
        • Sub-Investigator:
          • Jérome Cottalorda, PU PH
      • Paris, France, 75743
        • Recruiting
        • Necker Hospital
        • Contact:
        • Principal Investigator:
          • Isabelle Desguerre, PU PH
      • Reims, France, 51092
        • Recruiting
        • UH Reims
        • Contact:
        • Principal Investigator:
          • Pascal Sabouraud, PH
      • Saint Etienne, France, 42055
        • Recruiting
        • UH Saint Etienne
        • Contact:
        • Principal Investigator:
          • Stéphane CHABRIER, PH
        • Sub-Investigator:
          • Leonard Feasson, PH
      • Toulouse, France, 31059
        • Recruiting
        • UH Toulouse
        • Contact:
        • Principal Investigator:
          • Claude Cances, PU PH

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

5 months to 13 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Boy between 2 to 15 years old.
  • Lack of any infectious disease in the last week before the study.
  • Consent form signed by parents.

Inclusion Criteria for DMD infant

  • Clinical suspicion of Duchenne Muscular Dystrophy

Inclusion Criteria for Control healthy Infant

  • Lack of any antecedent of congenital cardiac, pulmonary or muscular disease including DMD.

Exclusion Criteria:

  • Subjects who are unable or unwilling to tolerate study constraints
  • Parents of the subject unable or unwilling to undergo informed consent
  • Subject with no rights from the national health insurance programme

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: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: DMD infant
Muscle biopsy
Other: Muscle biopsy
Muscle biopsy
Other: Control infant
Muscle biopsy (during lower limb operation surgery for pure orthopedic causes)
Other: Muscle biopsy
Muscle biopsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Quantification of endomysial fibrosis
Time Frame: 1 day (biopsy day)
1 day (biopsy day)
quantification of the muscle inflammation
Time Frame: 1 day (biopsy day)
  • Measure of the protein (Immunofluorescence and western blot) and mRNA (qRT-PCR) expression of the following markers of muscular inflammation response
  • Presence and quantification of cellular partners of inflammation and muscle regeneration (M1 (CD68/KP1) and M2 (CD206) macrophages, quiescent and activated satellite cells (CD56/NCAM) and endothelial cells (CD31/PECAM-1)).
1 day (biopsy day)

Collaborators and Investigators

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

Sponsor

University Hospital, Montpellier

Investigators

  • Principal Investigator: François RIVIER, PU PH, UH 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)

November 7, 2012

Primary Completion (Anticipated)

January 1, 2021

Study Completion (Anticipated)

January 1, 2021

Study Registration Dates

First Submitted

March 22, 2013

First Submitted That Met QC Criteria

March 29, 2013

First Posted (Estimate)

April 4, 2013

Study Record Updates

Last Update Posted (Actual)

February 7, 2020

Last Update Submitted That Met QC Criteria

February 6, 2020

Last Verified

February 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 8948 (Tabriz University of Medical Sciences)

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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