20.500.12556/DiRROS-24513 Newborn screening programs for spinal muscular atrophy worldwide in 2023 BackgroundSpinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular atrophy. ObjectiveThe aim of this study was to evaluate the progress in implementing newborn screening for spinal muscular atrophy and therapy accessibility worldwide, after the first paper published in 2021. MethodsWe conducted a survey, contacted experts from 143 countries worldwide, gathered responses from 86 experts from 80 countries. ResultsBy 2023, 31 countries reported established programs, 33 in the beginning of the year 2024; identifying approximately 1176 cases of spinal muscular atrophy. Additionally, the availability of disease-modifying therapies has expanded. At least one therapy is now accessible in 62 countries. Challenges, such as lack of governmental support, resource constraints, and varying healthcare priorities continue to impede implementation in some countries. ConclusionsThe data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028 newborn screening spinal muscular atrophy pre-symptomatic nusinersen risdiplam onasemnogene abeparvovec true false true Angleški jezik Ni določen Neznano 2025-12-03 13:47:27 2025-12-03 13:47:28 2025-12-04 03:46:31 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 4. 5. 2025; 1180-1189 iss. 6 Vol. 11 2024 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 616.8 2214-3602 10.1177/22143602241288095 234683395 RAZ_Vrscaj_Eva_2024.pdf RAZ_Vrscaj_Eva_2024.pdf 1 0F939127C07897F479EA2EA53C75EC0F 34ac2289352fa39963b7306a7d26bebbd837f03b426d4ec37a51c9c90ebdaa06 52268169-d046-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36540 https://journals.sagepub.com/doi/10.1177/22143602241288095 1 3b093f57-d046-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36539 Univerzitetni klinični center Ljubljana 0 0 0