P.041 3 year longitudinal health related quality of life in a spinal muscular atrophy cohort

Abstract

Background: Spinal Muscular Atrophy (SMA) is a rare, genetic disorder marked by motor neuron degeneration, causing progressive muscle weakness. SMA significantly impacts patients and their families. This study investigates HRQOL in a longitudinal SMA cohort. Methods: The study used the Canadian Neuromuscular Disease Registry to examine HRQOL in children aged 6-10 years with genetically confirmed SMA. HRQOL was evaluated using the PedsQL™ Measurement Model. This tool is validated in children and adolescents with various health conditions. The PedsQL Neuromuscular Module which has been validated in SMA was also used. Results: Eight participants completed the PedsQL generic and Neuromuscular Module at timepoint 1 (TP1) and 2 (TP2). The mean scores at TP1 were 49.66 (SD=5.05) for the generic PedsQL and 61.06 (SD=18.37) for the Neuromuscular Module. At TP2, mean scores increased to 59.32 (SD=13.08) and 74.86 (SD=9.88), respectively. The overall mean change over the two timepoints was +9.66 (SD=15.16) for the Generic PedQL and +13.80 (SD=23.03) for the Neuromuscular Module. Six participants were on disease modifying treatment. Conclusions: HRQOL scores in SMA patients improved over the study period. The enhancement in HRQOL may indicate the positive impact of diseases modifying treatments of SMA that became available during that time.