Informations générales (source: ClinicalTrials.gov)
Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
Interventional
N/A
University Hospital, Montpellier (Voir sur ClinicalTrials)
novembre 2012
janvier 2021
29 juin 2024
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Necker-Enfants Malades | Isabelle DESGUERRE, PU PH | Contact (sur clinicalTrials) | |||
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| UH Bordeaux - 33076 - Bordeaux - France | Caroline Epsil | Contact (sur clinicalTrials) | |||
| UH Lille - 59037 - Lille - France | Jean-Marie Cuisset, PH | Contact (sur clinicalTrials) | |||
| UH Reims - 51092 - Reims - France | Pascal Sabouraud, PH | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Montpellier University Hospital - 34295 - Montpellier - France | Claire Chauveton | Contact (sur clinicalTrials) | |||
| UH Saint Etienne - 42055 - Saint Etienne - France | Stéphane CHABRIER, PH | Contact (sur clinicalTrials) | |||
| UH Toulouse - 31059 - Toulouse - France | Claude Cances, PU PH | Contact (sur clinicalTrials) | |||
Critères
Tous
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.
- 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.
- 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