Exon-skipping therapies for DMD in Kazakhstan: Progress and challenges

BackgroundDuchenne muscular dystrophy (DMD) progression has been evaluated in clinical trials; however, some ethnic populations-including Kazakhstan, a country with a genetically unique population-are still underrepresented. While the prevalence of DMD in Kazakhstan has yet to be reported, Kazakhstan is one of the only central Asian countries with access to exon-skipping therapies for DMD. Although these therapies have been provided through regional budget and public funds since 2021, due to high costs and inconsistent support, accessibility remains challenging.ObjectiveTo describe the disease progression of exon-skipping-treated patients with DMD in Kazakhstan and discuss treatment management challenges.MethodsData from exon-skipping-treated patients (January 2021-April 2025) were provided to an expert council for review every 6 months. Functional outcomes (Scott scale, Vignos scale, 6-minute walk test, and 4-stair climb) were extracted and analyzed.ResultsA total of 46 patients received eteplirsen (n = 24), golodirsen (n = 14), and casimersen (n = 8). Median ages at eteplirsen, golodirsen, and casimersen initiation were 9.1, 9.6, and 10.3 years, respectively. During the follow-up period, 10 of 46 patients discontinued their exon-skipping therapy, and one patient died (decompensated cardiomyopathy). Functional assessments showed that patients were generally stable or improved over time. Approximately one-third of patients experienced treatment interruptions or were anticipated to be unable to maintain their prescribed exon-skipping therapy due to inadequate funding.ConclusionsThese data reflect the challenges patients with DMD experience in Kazakhstan, and the need for improved funding to maximize the therapeutic potential of exon-skipping therapies.