The economic impact and health-related quality of life of Spinal Muscular Atrophy: An analysis across Europe.

Abstract Background this study aimed to estimate the economic impact and health related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in three European countries. For this purpose, it was a cross-sectional study carried out in France, Germany and the United Kingdom. Data were collected from July 2015 to November 2015. Healthcare costs (hospitalizations, emergencies, medical tests, drugs consumption, visits to GPs and specialists, health material and healthcare transport) and non-healthcare costs (social services and informal care) were identified and valued. EuroQol instruments, the Zarit interview and the Barthel Index were also used to reflect the burden and the social impact of the disease beyond the healthcare cost.Results we included 86 children with SMA, 26.7% of them Type I and 73.3% Type II or III. The annually average cost associated with SMA reaches at 54,295 € in the UK, 32,042 € in France and 51,983 € in Germany. The direct non-healthcare costs ranged between 79%-86% of the total cost and the informal care costs were the main determinant of these costs. Additionally, people suffering from this disease have a very low health related quality of life, showing large differences between countries.Conclusions SMA represents a considerably high socioeconomic impact both in terms of healthcare and social costs. It was also observed exceptional reduced HRQOL of children affected. The figures shown in this study may help to design more efficient and equitable policies, with special emphasis on the support provided to the families or non-healthcare aids.