OBJECTIVES: To present the most recent data on real-world ataluren benefits on upper limb and pulmonary function, compared to standard of care (SoC).

METHODS: A search at EMBASE and Medline was conducted using the terms: [ataluren + pulmonary or respiratory function]; [ataluren + upper limb]. This search brought 3 relevant references (McDonald, 2022; Michael, 2021 and Tulinius, 2022). The same search was performed on the abstracts of the 27th Annual Congress of the World Muscle Society (WMS), October 2022. This search brought 1 additional relevant reference (McDonald, LSVP #26).

RESULTS: McDonald, 2022, an ataluren phase 3 clinical trial, showed that ataluren delayed by 3 years the predicted FVC < 60% compared with matched controls. Michael, 2021, a Swedish experience on ataluren treatment in long term, showed that even after loss of ambulation, PUL values continued to be above the expected over time in the majority of ataluren treated patients. And Tulinius, 2022, compared data from STRIDE, an ongoing observational registry study, with those from the DMD natural history study (CINRG): patients treated with SoC only. It was observed that Ataluren delayed the age at predicted FVC < 60% by 1.8 year.

The additional abstract from the WMS congress compared data from STRIDE, as well with those from the DMD natural history study and showed that patients on Ataluren preserved the hand-to-mouth function by 3.4 years.

CONCLUSIONS: These data suggest ataluren + SoC slow disease progression in milestones other than ambulatory function, such as pulmonary and upper limb function.