OBJECTIVES: To assess the face validity of a decision-analytic model evaluating the cost-utility of ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).

METHODS: This was a Delphi panel comprising of physicians with first-hand experience of ataluren for the treatment of nmDMD. Consensus was investigated for key model parameters, including the expected benefit of early ataluren treatment, mortality, informal caregiving, and patient health status and quality of life (assessed using the Health Utility Index [HUI]) for four disease stages: (1) ambulatory (patient age: 10 years), (2) non-ambulatory, not yet requiring ventilation support, (3) non-ambulatory, at the time of initiation of night-time ventilation support, and (4) non-ambulatory, at the time of initiation of full-time ventilation support.

RESULTS: Nine experts from five countries participated in the study. Consensus was obtained for all questions after three panel rounds (except for two HUI-questions concerning hand function [dexterity]). Panelists agreed that starting treatment with ataluren at 2 vs. 5 years of age would be expected to delay loss of ambulation by an additional 2 years, and initiation of night-time and full-time ventilation support by 3 years, respectively. On average, 4%, 13%, and 33% of all patients reaching stages (1), (2), and (3) were expected to die in these stages, and life expectancy in stage (4) was agreed to be 3 years. All panelists agreed that two informal caregivers provided day-to-day care/support to patients with nmDMD across all disease stages. Consensus HUI-derived utilities for stage (1) were 1.0000 for ataluren on top of best supportive care (BSC) and 0.7337 for BSC alone. Corresponding estimates for stage (2) were 0.3179 and 0.2672, for stage (3) 0.1643 and 0.0913, and for stage (4) -0.0732 and -0.1163.

CONCLUSIONS: This study confirms face validity of the ataluren cost-effectiveness model and provides further evidence of the benefits of ataluren.