{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:25:18Z","timestamp":1787855118835,"version":"build-2784847793"},"reference-count":35,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:00:00Z","timestamp":1787788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T00:00:00Z","timestamp":1787788800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100014943","name":"Sarepta Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014943","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Duchenne muscular dystrophy (DMD) progression has been evaluated in clinical trials; however, some ethnic populations\u2014including Kazakhstan, a country with a genetically unique population\u2014are 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe the disease progression of exon-skipping\u2013treated patients with DMD in Kazakhstan and discuss treatment management challenges.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data from exon-skipping\u2013treated patients (January 2021\u2013April 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602261476365","type":"journal-article","created":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:10:24Z","timestamp":1787854224000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Exon-skipping therapies for DMD in Kazakhstan: Progress and challenges"],"prefix":"10.1177","author":[{"given":"Altynshash","family":"Jaxybayeva","sequence":"first","affiliation":[{"name":"Neurology Department, Center of Molecular Medicine"},{"name":"Neurology Department, National Center of Children\u2019s Rehabilitation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bakhytkul","family":"Myrzaliyeva","sequence":"additional","affiliation":[{"name":"Neurology Department, Kazakh-Russian Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzhan","family":"Lepessova","sequence":"additional","affiliation":[{"name":"Neurology Department, Kazakh-Russian Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Latina","family":"Tekebayeva","sequence":"additional","affiliation":[{"name":"Neurology Department, KF University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinmukhamed","family":"Ayaganov","sequence":"additional","affiliation":[{"name":"Neurology Department, West Kazakhstan Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,27]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2023.1183101"},{"key":"e_1_3_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70271-6"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01430-8"},{"key":"e_1_3_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"e_1_3_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23982"},{"key":"e_1_3_6_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0631-3"},{"key":"e_1_3_6_9_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24119117"},{"key":"e_1_3_6_10_2","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2023.026"},{"key":"e_1_3_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-023-01423-y"},{"key":"e_1_3_6_12_2","doi-asserted-by":"publisher","DOI":"10.57264\/cer-2023-0086"},{"key":"e_1_3_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-018-3555-3"},{"key":"e_1_3_6_14_2","first-page":"39","volume-title":"Casimersen in Patients With Duchenne Muscular Dystrophy: Interim Safety and Muscle Biopsy Results From the Phase 3 ESSENCE Trial Presented at the 2023 MDA Clinical and Scientific Conference","author":"Iannaccone S","year":"2023","unstructured":"Iannaccone S, Phan H, Straub V, et al. Casimersen in Patients With Duchenne Muscular Dystrophy: Interim Safety and Muscle Biopsy Results From the Phase 3 ESSENCE Trial Presented at the 2023 MDA Clinical and Scientific Conference. Dallas, TX, and Virtual, 2023, p. 39."},{"key":"e_1_3_6_15_2","doi-asserted-by":"publisher","DOI":"10.2147\/DDDT.S97635"},{"key":"e_1_3_6_16_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210643"},{"key":"e_1_3_6_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-01106-1"},{"key":"e_1_3_6_18_2","unstructured":"Sarepta Therapeutics I. EXONDYS 51 (eteplirsen) injection for intravenous use. https:\/\/www.exondys51.com\/pi (2024)."},{"key":"e_1_3_6_19_2","unstructured":"Sarepta Therapeutics I. AMONDYS 45 (casimersen) injection for intravenous use. https:\/\/www.amondys45.com\/pi (2024)."},{"key":"e_1_3_6_20_2","unstructured":"Sarepta Therapeutics I. VYONDYS 53 (golodirsen) injection for intravenous use. https:\/\/www.vyondys53.com\/pi (2024)."},{"key":"e_1_3_6_21_2","unstructured":"Pharma N. VILTEPSO (viltolarsen) injection for intravenous use 2021."},{"key":"e_1_3_6_22_2","unstructured":"Pharma N. NS Pharma announces marketing authorization in Japan of VILTEPSO for the treatment of Duchenne 2020. https:\/\/www.wespeakduchenne.com\/treatments?utm_source=nspharma.com_exon_skipping&utm_medium=referral"},{"key":"e_1_3_6_23_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221559"},{"key":"e_1_3_6_24_2","doi-asserted-by":"publisher","DOI":"10.11604\/pamj.2014.19.227.3137"},{"key":"e_1_3_6_25_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221528"},{"key":"e_1_3_6_26_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1963.03700150043007"},{"key":"e_1_3_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880050405"},{"key":"e_1_3_6_28_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162206001137"},{"key":"e_1_3_6_29_2","unstructured":"Population density of the Republic of Kazakhstan. 2025. Assessed January 30 2026: https:\/\/www.geo-ref.net\/ph\/kaz.htm"},{"key":"e_1_3_6_30_2","unstructured":"Mathews K Grabich S Dharmarajan S et al. Comparative Analysis of Loss of Ambulation in Eteplirsen-Treated Patients With DMD in the EVOLVE Study and Propensity Score\u2013Weighted External Controls Presented at the 2025 MDA Clinical and Scientific Conference. 2025."},{"key":"e_1_3_6_31_2","unstructured":"Muntoni F Seferian AM Straub V et al. Six-Year Long-Term Safety and Efficacy of Golodirsen in Patients With DMD vs Mutation-Matched External Controls Presented at the 2024 MDA Clinical and Scientific Conference. 2024. M162."},{"key":"e_1_3_6_32_2","article-title":"Interim Analysis of EVOLVE: A Long-Term Observational Phase 4 Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice","author":"Tian C","year":"2023","unstructured":"Tian C, Veerapandiyan A, Grabich S, et al. Interim Analysis of EVOLVE: A Long-Term Observational Phase 4 Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice. 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