OBJECTIVES: Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder. The objective of the study was to assess the cost-effectiveness of early treatment initiation, given the expanded indication of ataluren, for patients with nonsenses mutation DMD.

METHODS: A partitioned survival model was used to assess the cost-effectiveness of ataluren with treatment start at 2 years vs 5 years. The model structure was developed based on the HERCULES natural history model and it consists of five health states being ambulatory, pFVC > 50%, pFVC < 50%, pFVC < 30% and death. Clinical inputs were informed by Strategic Targeting of Registries and International Database of Excellence (STRIDE) registry – an ongoing, multicenter, observational registry providing real-world evidence. The analysis was conducted in a UK setting. Ataluren list price was used in the analysis. Costs, utilities, and early treatment impact were derived from published literature and a clinical expert consensus panel. The model assumed that patients were 100% compliant to ataluren and they continued treatment until they reach a pFVC < 50%. Health effects were discounted by 1.5% and costs were discounted by 3.5%, in line with the NICE guidelines. A lifetime horizon and a payer perspective were used in the base case.

RESULTS: The model results suggested treatment of ataluren starting at 2 years vs 5 years is associated with 10.75 quality-adjusted life-years (QALYs) gained an incremental cost of £28,432. This resulted in the incremental cost-effectiveness ration (ICER) of £2,644 per QALY gained.

CONCLUSIONS: Early treatment initiation of ataluren is associated with a low ICER. Muscle degeneration in DMD is progressive and irreversible, therefore diagnosing and starting treatment as early as possible are critical to delay the disease progression.