A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4 years in Italy (2), the UK (1) and Israel (1).
In this study:
• The four women received treatment at ages 9, 26, 29 and 43 years and for an average of 2.8 years.
• Their long-term follow-up showed that :
- two of them had retained walking at the age of 13 and 31 years, after 4 and 2 years of treatment respectively;
- one woman treated for 4 years from the age of 26 had difficulty walking at the age of 30, with a waddling gait;
- the last one, treated for 2 years, had lost her walking ability at 49 years of age, six years after the beginning of the treatment.
• Motor, respiratory and cardiac assessments of the patients showed a relative preservation of these functions. The authors believe that this result translates into a stabilisation of the disease.
Although this study has limitations (small number of patients, heterogeneous group, impossibility of evaluating the data after treatment in all the participants, etc.), it provides factual elements for these symptomatic women who could have access to ataluren. Larger clinical studies in younger women may provide further evidence.
