OUTCOME MEASURES IN DUCHENNE MUSCULAR DYSTROPHY: VALIDATION OF THE PEDIATRIC QUALITY OF LIFE INVENTORYTM NEUROMUSCULAR MODULE IN THE ITALIAN POPULATION AND CORRELATION WITH OTHER FUNCTIONAL ASSESSMENTS

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. Recently several promising therapeutic approaches have been developed. Main issues in designing multicentric clinical trials in DMD is the lack of validated instruments to assess quality of life (QoL) in children with neuromuscular disorders and of an international agreement on the outcome measures to be used. Recently the Pediatric Quality of Life Inventory TM Neuromuscular Module (PedsQL NM) has been proposed as a reliable tool to assess QoL in children with neuromuscular disorders. The questionnaire has been validated in spinal muscular atrophy (SMA) patients in USA. So far no systematic study has been planned for DMD boys. The aim of this project is to validate the PedsQL NM in children and adolescents with DMD. Moreover, in the sub-cohort of ambulant patients after the age of 4 years, we will assess the correlation of the QoL data with the results of the 6 Minute Walk Test (6MWT), the North Star Ambulatory Assessment (NSAA) and the timed items, outcome measures that have been suggested to be appropriate for future trials. We also aim to follow possible changes in assessments between baseline and 6 and 12 months in a relative large cohort of DMD patients of age between 2 and 18 years. One of the crucial point of the clinical management and one of main point of Telethon mission is improving QoL of patients with genetic neuromuscular disorders, but at the moment we do not have a validated tool able to assess QoL in Italian children with these disorders. This project will make available a tool to assess QoL of children with DMD in Italy. At the end of this project all centers will be able to enter international therapeutic trials such as the forthcoming FOR DMD in which some of the assessments validated in this project have been selected as outcome measures.