Spinal Muscular Atrophy: A Review of Epidemiology, Burden and Unmet Needs (P4.4-016)

Objective: To understand the epidemiology, humanistic and economic burden of disease and unmet medical needs in Spinal Muscular Atrophy (SMA) Type 1, 2 and 3. Background: SMA is a rare and severe neuromuscular autosomal recessive disorder characterized by degeneration of alpha motor neurons in the spinal cord. Over time, degeneration of neurons leads to symmetrical and progressive muscle wasting, followed by paralysis and an early death. Design/Methods: A literature search was conducted in Medline®, Embase® and Cochrane Library using disease related search terms and outcomes of interest. Additionally, sources such as Google Scholar were searched for relevant information. Articles published in English worldwide up to 16 April 2018 were included. Results: 413 articles were retrieved, of which 37 were included for evidence collation. Estimated incidence of SMA (all types) ranged from 5.1–27.7 per 100,000 live births, with highest incidence rates reported in Europe. Among SMA sub-types, Type 1 SMA was found to be the most common. Worldwide registry-based prevalence of SMA (all types) ranged from 0.01–4.11 per 100,000 persons. Studies evaluating health-related quality of life (HRQoL) in SMA demonstrated substantial deterioration in HRQoL in SMA Type 1, 2 and 3 patients, with an impact on families. Limited cost of illness studies in SMA (all types) estimated annual per capita costs (direct and indirect costs) as high as €70,566 in Europe to $184,647 in United States. Recent disease modifying therapy developments are critical given the substantial unmet medical needs in diagnosis, disease management, and supportive care of SMA patients including a lack of robust treatment guidelines. Conclusions: The evidence demonstrates the substantial financial and humanistic impact of SMA on both patients and their families across all three types of SMA. Disease-modifying therapies are critical in this rare disease to improve the lives of SMA patients and their families. Disclosure: Dr. Callan has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Ireland Ltd. Dr. Nallagangula has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Healthcare Pvt Ltd. Dr. Jawla has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Healthcare Pvt Ltd., Hyderabad, India. Dr. Jullien De Pommerol has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Pharma AG, Basel, Switzerland. Dr. Risson has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis Pharma AG, Basel, Switzerland.