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

NCT ID: NCT01823783

Last Updated: 2020-02-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

50 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-11-07

Study Completion Date

2021-01-31

Brief Summary

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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.

Detailed Description

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Conditions

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Duchenne Muscular Distrophy (DMD)

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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DMD infant

Muscle biopsy

Group Type OTHER

Muscle biopsy

Intervention Type OTHER

Muscle biopsy

Control infant

Muscle biopsy (during lower limb operation surgery for pure orthopedic causes)

Group Type OTHER

Muscle biopsy

Intervention Type OTHER

Muscle biopsy

Interventions

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Muscle biopsy

Muscle biopsy

Intervention Type OTHER

Eligibility Criteria

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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.


* Clinical suspicion of Duchenne Muscular Dystrophy


* 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
Minimum Eligible Age

2 Years

Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Hospital, Montpellier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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François RIVIER, PU PH

Role: PRINCIPAL_INVESTIGATOR

uh montpellier

Locations

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UH Bordeaux

Bordeaux, , France

Site Status RECRUITING

UH Lille

Lille, , France

Site Status RECRUITING

Montpellier University Hospital

Montpellier, , France

Site Status RECRUITING

Necker Hospital

Paris, , France

Site Status RECRUITING

UH Reims

Reims, , France

Site Status RECRUITING

UH Saint Etienne

Saint-Etienne, , France

Site Status RECRUITING

UH Toulouse

Toulouse, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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François RIVIER, PU PH

Role: CONTACT

Stefan Matecki, PU PH

Role: CONTACT

Facility Contacts

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Caroline Epsil

Role: primary

Jean-Marie Cuisset, PH

Role: primary

Claire Chauveton

Role: primary

Isabelle DESGUERRE, PU PH

Role: primary

Pascal Sabouraud, PH

Role: primary

Stéphane CHABRIER, PH

Role: primary

Claude Cances, PU PH

Role: primary

Other Identifiers

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8948

Identifier Type: -

Identifier Source: org_study_id

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