Awarded to Professor Francesco Muntoni, Hammersmith Hospital, 2005
This study's primary aim is to identify an optimal assessment protocol for children affected by the chronic forms of SMA (II and III) that are validated not only to monitor disease course but also for future therapeutic trials.
The monitoring of the clinical course using reliable measures in SMA is complicated by the significant weakness of affected individuals and the difficulty in establishing reliable measures of muscle power in young children. While some groups advocate the measurement of muscle strength as an outcome measure for therapeutic trials in SMA, others suggest that functional scales could provide a more reliable indication of disease progression and effect of intervention.
Members of our consortium have recently generated a scale for non-ambulant patients affected by SMA. Regarding ambulant type III patients, we propose to use the already widely used scale generated by Scott et al [1982] for children affected by Duchenne muscular dystrophy, who have, on the whole, similar level of physical disability. However this scale has never been validated in ambulant children with SMA III.
The specific aims of our study will therefore be:
a.) to extend the use of the SMA functional scale [Main et al, 2003] and the Scott scale [1982] to a larger population of patients;
b) to assess inter-observer reliability of the scales;
c) to study the within-subject reproducibility of the scales over an interval of time
d) to study muscle power using myometry measurements of a restricted number of muscle samples;
e) to study muscle power using MRC scale measurements of a restricted number of muscle samples;
f) to correlate the over time, and assess the intra-institution variability of the functional motor outcome scales, and MRC and myometry; h) to modify a quality of life paediatric scale, that could be used in children with SMA.
We gratefully acknowledge the contribution of the SMA Trust towards the funding of this project. | 
