Duchenne Muscular Dystrophy: phenotype-genotype correlations

Duchenne muscular dystrophy (DMD) is an inherited disease of the X chromosome due to mutations in the gene that codes for dystrophin, whose absence causes progressive muscle deterioration. Over time, this damage leads to the loss of the ability to walk and causes alterations in the function of the respiratory and cardiac muscles. This project is in continuity with the studies started thanks to previous Telethon-UILDM projects. In fact, the clinical network of Italian centers that is caring for patients with DMD has been collecting data from over 200 patients with DMD for many years using the same assessment tools used in ongoing clinical trials on this disease. With this study, therefore, we intend to continue the collection of clinical signs, especially those relating to motor function data, in a large group of children and adolescents affected by DMD. The goal is to better define the natural history of the disease and provide industry that develops new therapies such as those based on exon skipping with valuable information for the design of trials and for the interpretation of the results obtained. Following these children for a further 3 years will also allow us to establish the contribution of various variables on the progression of the disease, such as the possible effect of age, the functional level at the start of the study, or early risk factors capable of predicting the time in which will result in the loss of walking.