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Tãtaru et al. Rare Dis Orphan Drugs J 2024;3:19 https://dx.doi.org/10.20517/rdodj.2024.08 Page 9 of 10
DECLARATIONS
Authors’ contributions
Manuscript concept: Ouillade MC, Tãtaru EA
Contributed to the first and subsequent drafts: Tãtaru EA, Ouillade MC
Contributed to multiple critical revisions: Tãtaru EA, Chan CH, Pearce DA
Availability of data and materials
Not applicable.
Financial support and sponsorship
None.
Conflicts of interest
Pearce DA is an Editorial Board member of Rare Disease and Orphan Drugs Journal, while the other authors
have declared that there are no conflicts of interest.
Ethical approval and consent to participate
Not applicable.
Consent for publication
Not applicable.
Copyright
© The Author(s) 2024.
REFERENCES
1. CRA insights: life sciences. A landscape assessment of newborn screening (NBS) in Europe. 2021. Available from: https://media.crai.
com/wp-content/uploads/2021/11/19130322/CRA-LS-Insights-NBS-Policy.pdf [Last accessed on 6 Jun 2024].
2. Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and
developments since 2010. Int J Neonatal Screen 2021;7:15. DOI
3. Assessing the policy and access environment across European countries for SMA patients: identifying key areas for improvement.
Available from: https://smatracker.eu/static/da46a45ac8edb35da49fad104f8eaafd/Tracker_of_Policy_and_Access_Environment_for_
SMA_Patients_de4d7ac1c0.pdf [Last accessed on 6 Jun 2024].
4. Gowda VL, Fernandez-Garcia MA, Jungbluth H, Wraige E. New treatments in spinal muscular atrophy. Arch Dis Child 2023;108:511-
7. DOI PubMed
5. De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy:
interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscul Disord 2019;29:842-56. DOI
6. Spinal muscular atrophy. Available from: https://smatracker.eu/what-is-spinal-muscular-atrophy [Last accessed on 6 Jun 2024].
7. Keinath MC, Prior DE, Prior TW. Spinal muscular atrophy: mutations, testing, and clinical relevance. Appl Clin Genet 2021;14:11-25.
DOI PubMed PMC
8. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med
2017;377:1723-32. DOI
9. Jablonka S, Hennlein L, Sendtner M. Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and
neurodegenerative disorders. Neurol Res Pract 2022;4:2. DOI PubMed PMC
10. SPR1NT: an open-label, single-arm clinical trial of presymptomatic patients with SMA. Available from: https://www.zolgensma-hcp.
com/clinical-experiences/spr1nt-trial-efficacy/ [Last accessed on 6 Jun 2024].
11. #MDA2022 - Newborns treated with evrysdi standing, walking 1 year later. Available from: https://smanewstoday.com/news/mda-
2022-presymptomatic-babies-treated-evrysdi-standing-walking-one-year-rainbowfish-trials/ [Last accessed on 6 Jun 2024].
12. Mercuri E, Muntoni F, Baranello G, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular
atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol 2021;20:832-41. DOI
13. Finkel R, Farrar M, Vlodavets D, et al. FP.24 RAINBOWFISH: preliminary efficacy and safety data in risdiplam-treated infants with
presymptomatic spinal muscular atrophy (SMA). Neuromuscul Disord 2022;32:S85-6. DOI
14. Antonaci L, Pera MC, Mercuri E. New therapies for spinal muscular atrophy: where we stand and what is next. Eur J Pediatr