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

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ClinicalTrials.gov Identifier: NCT01823783
Recruitment Status : Recruiting
First Posted : April 4, 2013
Last Update Posted : May 10, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Montpellier

Brief Summary:

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.


Condition or disease Intervention/treatment Phase
Duchenne Muscular Distrophy (DMD) Other: Muscle biopsy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 50 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
Actual Study Start Date : November 7, 2012
Estimated Primary Completion Date : June 2018
Estimated Study Completion Date : September 2018


Arm Intervention/treatment
DMD infant
Muscle biopsy
Other: Muscle biopsy
Muscle biopsy

Control infant
Muscle biopsy (during lower limb operation surgery for pure orthopedic causes)
Other: Muscle biopsy
Muscle biopsy




Primary Outcome Measures :
  1. Quantification of endomysial fibrosis [ Time Frame: 1 day (biopsy day) ]
  2. 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)).



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Ages Eligible for Study:   2 Years to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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

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): NCT01823783


Contacts
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Contact: François RIVIER, PU PH f-rivier@chu-montpellier.fr
Contact: Stefan Matecki, PU PH s-matecki@chu-montpellier.fr

Locations
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France
UH Bordeaux Recruiting
Bordeaux, France, 33076
Contact: Caroline Epsil       caroline.epsil@chu-bordeaux.fr   
Principal Investigator: Caroline Epsil, PH         
UH Lille Recruiting
Lille, France, 59037
Contact: Jean-Marie Cuisset, PH       jean-marie.cuisset@chru-lille.fr   
Principal Investigator: Jean-Marie Cuisset, PH         
Montpellier University Hospital Recruiting
Montpellier, France, 34295
Contact: Claire Chauveton       c-chauveton@chu-montpellier.fr   
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         
Necker Hospital Recruiting
Paris, France, 75743
Contact: Isabelle DESGUERRE, PU PH       isabelle.desguerre@nck.aphp.fr   
Principal Investigator: Isabelle Desguerre, PU PH         
UH Reims Recruiting
Reims, France, 51092
Contact: Pascal Sabouraud, PH       psabouraud@chu-reims.fr   
Principal Investigator: Pascal Sabouraud, PH         
UH Saint Etienne Recruiting
Saint Etienne, France, 42055
Contact: Stéphane CHABRIER, PH       stephane.chabrier@chu-st-etienne.fr   
Principal Investigator: Stéphane CHABRIER, PH         
Sub-Investigator: Leonard Feasson, PH         
UH Toulouse Recruiting
Toulouse, France, 31059
Contact: Claude Cances, PU PH       cances.c@chu-toulouse.fr   
Principal Investigator: Claude Cances, PU PH         
Sponsors and Collaborators
University Hospital, Montpellier
Investigators
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Principal Investigator: François RIVIER, PU PH uh montpellier

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Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT01823783     History of Changes
Other Study ID Numbers: 8948
First Posted: April 4, 2013    Key Record Dates
Last Update Posted: May 10, 2018
Last Verified: May 2018

Keywords provided by University Hospital, Montpellier:
Duchenne muscular distrophy
Endomysial Fibrosis
Muscular Inflammatory Response
Calcium Homeostasis Dysfunction
Muscle biopsy

Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Fibrosis
Pathologic Processes
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Calcium
Calcium, Dietary
Calcium-Regulating Hormones and Agents
Physiological Effects of Drugs
Bone Density Conservation Agents