OUTCOME MEASURES IN DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. One of the main issue in designing multicentric clinical trials in DMD is the lack of agreement on outcome measures. Recently, the North Star Ambulatory Assessment (NSAA) has been developed in the UK. This scale is a quick and reliable tool to assess motor function in ambulant boys with the diagnosis of DMD. However this scale has not yet been validated or translated outside UK. The aim of this study is: i) to validate the NSAA in combination with selected timed items in a large cohort of Italian ambulant DMD patients ii) to collect longitudinal data over 6 and 12 month interval of NSAA and timed items and iii) to verify possible correlations between the two measurements. The project will be articulated in different steps: 1) Translation of the NSAA into Italian using appropriate translation procedures; 2)Training and assessment of physiotherapists from each Center. The assessment will consist in the application of the NSAA and in the performance of timed items (Gowers from sitting and from lying down) and 10 meters walk; 3) Enrolment of patients; 4) Follow up assessments 6 and 12 months after the initial assessment. 5) analysis of the data. Anticipated output: validate outcome measures available for clinical trials in the Italian DMD population and collect longitudinal information on the changes observed in ambulant DMD over 1 year period.