Clinical trial NCT01823783: Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy
Official title: Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Duchenne Muscular Distrophy (DMD)
Keywords: Duchenne muscular distrophy
Endomysial Fibrosis
Muscular Inflammatory Response
Calcium Homeostasis Dysfunction
Muscle biopsy
Lead sponsor: University Hospital, Montpellier
Sponsor class: OTHER
First posted: 2013-04-04
Enrollment: 50
Sex: ALL
Minimum age (years): 2
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: BASIC_SCIENCE

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.


Eligibility 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

Primary outcomes:
measure: Quantification of endomysial fibrosis
timeFrame: 1 day (biopsy day)
measure: quantification of the muscle inflammation
timeFrame: 1 day (biopsy day)
Secondary outcomes:
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: UH Bordeaux
city: Lille
country: France
facility: UH Lille
city: Montpellier
country: France
facility: Montpellier University Hospital
city: Paris
country: France
facility: Necker Hospital
city: Reims
country: France
facility: UH Reims
city: Saint Etienne
country: France
facility: UH Saint Etienne
city: Toulouse
country: France
facility: UH Toulouse
Study officials:
affiliation: uh montpellier
name: François RIVIER, PU PH
role: PRINCIPAL_INVESTIGATOR
References: