NCT01823783

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
50

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Nov 2012

Longer than P75 for not_applicable

Geographic Reach
1 country

7 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 7, 2012

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

March 22, 2013

Completed
13 days until next milestone

First Posted

Study publicly available on registry

April 4, 2013

Completed
7.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2021

Completed
Last Updated

February 7, 2020

Status Verified

February 1, 2020

Enrollment Period

8.2 years

First QC Date

March 22, 2013

Last Update Submit

February 6, 2020

Conditions

Duchenne Muscular Distrophy (DMD)

Keywords

Duchenne muscular distrophyEndomysial FibrosisMuscular Inflammatory ResponseCalcium Homeostasis DysfunctionMuscle biopsy

Outcome Measures

Primary Outcomes (2)

  • Quantification of endomysial fibrosis

    1 day (biopsy day)

  • quantification of the muscle inflammation

    * 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)

Study Arms (2)

DMD infant

OTHER

Muscle biopsy

Other: Muscle biopsy

Control infant

OTHER

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

Other: Muscle biopsy

Interventions

Muscle biopsyOTHER

Muscle biopsy

Control infantDMD infant

Eligibility Criteria

Age2 Years - 15 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

UH Bordeaux

Bordeaux, 33076, France

RECRUITING

UH Lille

Lille, 59037, France

RECRUITING

Montpellier University Hospital

Montpellier, 34295, France

RECRUITING

Necker Hospital

Paris, 75743, France

RECRUITING

UH Reims

Reims, 51092, France

RECRUITING

UH Saint Etienne

Saint-Etienne, 42055, France

RECRUITING

UH Toulouse

Toulouse, 31059, France

RECRUITING

Study Officials

  • François RIVIER, PU PH

    uh montpellier

    PRINCIPAL INVESTIGATOR

Central Study Contacts

François RIVIER, PU PH

CONTACT

f-rivier@chu-montpellier.fr

Stefan Matecki, PU PH

CONTACT

s-matecki@chu-montpellier.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 22, 2013

First Posted

April 4, 2013

Study Start

November 7, 2012

Primary Completion

January 1, 2021

Study Completion

January 1, 2021

Last Updated

February 7, 2020

Record last verified: 2020-02

Locations

FR(7)