POSA102 Burden of Disease and Cost of Illness of Spinal Muscular Atrophy in Portugal

Spinal muscular atrophy (SMA) is a heterogeneous genetic disease, being commonly characterized into 3 main phenotypes (type I, II and III) with different degrees of severity. This study aims to estimate the SMA burden and cost (types I, II and III) in mainland Portugal in 2019. The burden of disease and cost of illness were estimated for the 3 phenotypes, using a prevalence approach. Burden of disease was measured using disability-adjusted life years (DALY). Costs of illness were estimated using a societal perspective and included resource use and indirect costs (patients’ lost productivity). The main sources of information were the hospital morbidity database; program contracts; medicine consumption and price data, and the opinions of a panel with 7 experts (4 neuropediatricians and 3 neurologists). Prevalence of SMA was estimated at 147 patients (18 type I; 46 type II and 83 type III). Six deaths were attributed to SMA, generating a loss of 345 years of life due to premature death (75% related to SMA type II and III). In total, 403 DALY were lost (86% due to premature death; 14% due to disability). From an individual perspective, the burden is significant (2,7 DALY/patient; 5,4 DALY/type I patient and 2,4 DALY/type II-III patient). Medical costs totaled 16.6 million € (15.0 million € in direct costs; 1.6 million € in indirect costs). Productivity costs were estimated at 194 thousand €. Total costs were 16.8 million €, representing an average annual cost per patient of 114 thousand € (395 thousand € type I; 93 thousand € type II; 65 thousand € type III). SMA has a relevant socioeconomic impact, despite its low prevalence, namely at an individual level and on family/caregivers, stressing that all players need to be involved in the definition of national health policies on SMA approach.