Duchenne Muscular Distrophy (DMD) Clinical Trial
Official title:
Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
| NCT number | NCT01823783 |
| Other study ID # | 8948 |
| Secondary ID | |
| Status | Recruiting |
| Phase | N/A |
| First received | |
| Last updated | |
| Start date | November 7, 2012 |
| Est. completion date | January 2021 |
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.
| Status | Recruiting |
| Enrollment | 50 |
| Est. completion date | January 2021 |
| Est. primary completion date | January 2021 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | All |
| Age group | 2 Years to 15 Years |
| Eligibility |
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 |
| Country | Name | City | State |
|---|---|---|---|
| France | UH Bordeaux | Bordeaux | |
| France | UH Lille | Lille | |
| France | Montpellier University Hospital | Montpellier | |
| France | Necker Hospital | Paris | |
| France | UH Reims | Reims | |
| France | UH Saint Etienne | Saint Etienne | |
| France | UH Toulouse | Toulouse |
| Lead Sponsor | Collaborator |
|---|---|
| University Hospital, Montpellier |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Quantification of endomysial fibrosis | 1 day (biopsy day) | ||
| Primary | 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) |