PSY27 - SPINAL MUSCULAR ATROPHY: A REVIEW OF EPIDEMIOLOGY, BURDEN AND UNMET NEEDS

Abstract

Spinal Muscular Atrophy (SMA) is a rare and severe neuromuscular autosomal recessive disorder characterized by degeneration of alpha motor neurons in spinal cord. It is the most frequent genetic cause of infant death. The objective of this literature review was to understand the epidemiology, humanistic and economic burden of disease and unmet medical needs in SMA Type 1, 2 and 3. A literature search of Medline®, Cochrane Library and Embase® was conducted using disease related search terms and outcomes of interest. A hand search was also undertaken to ensure completeness. Articles published in English worldwide up to 16 April 2018 were included. 413 articles were retrieved from which 37 were included in this study. Estimated SMA (all types) incidence ranged from 5.1-27.7 per 100,000 live births, with highest incidence rates reported in Europe and Type 1 SMA being the most common sub-type. The worldwide registry-based prevalence estimates of SMA (all types) ranged from 0.01-4.11 per 100,000 persons. Studies estimating health-related quality of life (HRQoL) in SMA demonstrated a strong deterioration in HRQoL in SMA Type 1, 2 and 3 patients, and their caregivers relative to the general population. Limited cost of illness studies in SMA (all types) estimated annual per capita costs (both direct and indirect costs) as high as €70,566 in Europe to $184,647 in United States with one study noting the high costs compared to those without SMA. Substantial unmet needs exist in the diagnosis, cure, and supportive care of SMA patients and there is a dearth of robust treatment guidelines. SMA incurs significant healthcare costs and imposes a substantial economic and humanistic burden on SMA patients and their families. Severe burden associated with SMA necessitates concerted efforts towards developing disease modifying therapies and enhanced supportive mechanisms for patients.