Author(s)
Costa J1, Coelho T2, Moreno T3, Negrão L4, Ribeiro J4, Santos M5, Santos MO6, Vieira JP7, Pinheiro E8, Guerreiro R8, Silva Miguel L9, Borges M8
1Laboratório de Farmacologia Clínica e Terapêutica, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal, 2Unidade Clinica de Paramiloidose, Hospital de Santo Antonio, Porto, Portugal, 3Unidade de Neuropediatria, Hospital de Santa Maria (Centro Hospitalar e Universitário de Lisboa Norte), Lisboa, Portugal, 4Serviço de Neurologia, Centro Hospitalar e Universitário de Coimbra, Combra, Portugal, 5Serviço de Neuropediatria, Centro Hospitalar do Porto, Porto, Portugal, 6Departamento de Neurociências e Saúde Mental, Hospital de Santa Maria (Centro Hospitalar e Universitário de Lisboa Norte), Lisboa, Portugal, 7Serviço de Neurologia, Hospital Dona Estefânia (Centro Hospitalar e Universitário de Lisboa Central), Lisboa, Portugal, 8Centro de Estudos de Medicina Baseada na Evidência, Faculdade de Medicina, Universidade de Lisboa, Lisboa, 11, Portugal, 9Centro de Estudos de Medicina Baseada na Evidência, Faculdade de Medicina, Universidade de Lisboa, Salvo, Oeiras, 13, Portugal
OBJECTIVES: 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. METHODS: 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). RESULTS: 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). CONCLUSIONS: 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.
Conference/Value in Health Info
2021-11, ISPOR Europe 2021, Copenhagen, Denmark
Value in Health, Volume 24, Issue 12, S2 (December 2021)
Code
POSA102
Topic
Economic Evaluation, Epidemiology & Public Health
Topic Subcategory
Work & Home Productivity - Indirect Costs
Disease
Neurological Disorders, Rare and Orphan Diseases
