Ataluren is recommended, within its marketing authorisation, as an option for treating Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene in people 2 years and over who can walk. This is only if the company provides ataluren according to the commercial arrangement.
Why the committee made these recommendations
This evaluation reviews existing trial data, additional evidence collected as part of the managed access agreement for NICE highly specialised technologies guidance 3, and new real-world evidence (evidence collected outside clinical trials) on ataluren.
Duchenne muscular dystrophy, with a nonsense mutation in the dystrophic gene, is a rare and progressive condition. Over time it causes muscle weakness resulting in the loss of the ability to walk and reductions in respiratory ability, and it significantly reduces life expectancy. Current treatment options are limited.
Real-world evidence studies were used to estimate the treatment benefits of ataluren compared with best supportive care. The company did not use data from the managed access agreement in its economic model because it believed it did not provide the most appropriate outcome measures. The evidence provided, along with feedback from clinicians and people with the condition, suggests that ataluren is likely to slow down disease progression and delay the loss of the ability to walk. Evidence for improvements in later stages of the disease and improved survival with ataluren is limited and highly uncertain but ataluren may also improve outcomes once the ability to walk has been lost.
The cost-effectiveness estimates are uncertain because of how treatment benefits were estimated. There is uncertainty around the estimated costs of ataluren in the company's model. The way that carers' quality of life was included in the model was not realistic so this was considered qualitatively. That is, it was discussed in depth during decision making based on patient and clinical expert input on the factors that are important to carers. The cost-effectiveness estimates are uncertain because of the limitations in the clinical effectiveness data. But, with the commercial arrangement agreed after the second committee meeting, the cost-effectiveness estimates for ataluren are below the range that NICE usually considers acceptable for highly specialised technologies. So ataluren is recommended.