| Naslov: | Newborn screening programs for spinal muscular atrophy worldwide in 2023 |
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| Avtorji: | ID Vrščaj, Eva (Avtor)
ID Dangouloff, Tamara (Avtor)
ID Osredkar, Damjan (Avtor)
ID Servais, Laurent (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (757,44 KB)
MD5: 0F939127C07897F479EA2EA53C75EC0F
 URL - Izvorni URL, za dostop obiščite https://journals.sagepub.com/doi/10.1177/22143602241288095
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | 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 |
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| Ključne besede: | newborn screening, spinal muscular atrophy, pre-symptomatic, nusinersen, risdiplam, onasemnogene abeparvovec |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2024 |
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| Št. strani: | 1180-1189 |
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| Številčenje: | Vol. 11, iss. 6 |
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| PID: | 20.500.12556/DiRROS-24513  |
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| UDK: | 616.8 |
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| ISSN pri članku: | 2214-3602 |
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| DOI: | 10.1177/22143602241288095 |
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| COBISS.SI-ID: | 234683395 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 4. 5. 2025;
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| Datum objave v DiRROS: | 03.12.2025 |
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| Število ogledov: | 118 |
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| Število prenosov: | 52 |
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| Metapodatki: |    |
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