rarerelated tag: Healthcare Issues

This supplement includes five papers that add to our understanding of the costs, health-related quality of life, and cost effectiveness of different treatments for spinal muscular atrophy (SMA), as well as patient preferences for treatment. SMA is a severe, inherited neuromuscular disease with an incidence of approximately 1 in 10,000 live births. SMA has received increased attention with the recent US Food and Drug Administration (FDA) and European Medicines Agency (EMA) approvals of the gene therapy Zolgensma®, described as ‘the world’s most expensive drug’, for paediatric patients with the severe SMA type 1 or up to three copies of the gene SMN2. SMA type 0 is typically associated with foetal or neonatal death, while SMA type 4 is the mildest form and typically emerges in adulthood. Patients with SMA type 1 are unable to sit unassisted and their life expectancy is not typically more than 2–3 years.