Assessment of walking in patients with Duchenne muscular dystrophy receiving ataluren in real clinical practice

Background. Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by a variant in the DMD gene, leading to severe disability and death at a young age. Today, in some variants in the DMD gene, etiopathogenetic therapy is possible to increase the patient’s life expectancy and improve his quality of life.Aim. To evaluate the dynamics of assess the dynamics of the ability to walk independently in patients with DMD caused by a nonsense variant in the DMD gene on the background of therapy with the drug ataluren.Materials and methods. The study included 9 patients with DMD caused by nonsense variants in the DMD gene. Of them, 3 patients were brothers and lost the ability to walk, 6 patients at the ambulatory stage of the disease received therapy with the drug ataluren according to the standard scheme. The six-minute walk test was chosen as the main parameter to assess the treatment efficacy in comparison with the baseline values before treatment.Results. According to the data of six-minute walk test during the observation period 5 patients taking ataluren during 18–36 months retained the ability to move independently. One patient who initially walked 12 m lost ambulation 6 months after starting ataluren therapy. Compared with 3 non-ambulatory brothers with DMD due to the DMD nonsense gene variant who did not receive ataluren, 3 younger brothers on ataluren therapy retained ambulation at an age when the older brothers had already become non-ambulatory.Conclusion. Pathogenetic therapy with the drug ataluren slows down the clinical course of DMD caused by a nonsense variant in the DMD gene with preservation of ambulatory capacity and is characterized by good tolerability.