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).
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.
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