Clinical Research Directory

Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy

Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Summary

Duchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.

Official title: PNRR-MR1-2023-12377031, Development of a Registry to Assess Natural History in Duchenne Muscular Dystrophy

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