Roberts DF, Chavez J, Court SD. The genetic component in child mortality. Arch Dis Child. 1970;45:33–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155–65.

Article  CAS  PubMed  Google Scholar 

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20:27–32.

Article  PubMed  Google Scholar 

Munsat TL, Davies KE. International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2:423–8.

Article  CAS  PubMed  Google Scholar 

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014;83:810–7.

Article  PubMed  PubMed Central  Google Scholar 

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82:883–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30:377–84.

Article  CAS  PubMed  Google Scholar 

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006;119:422–8.

Article  CAS  PubMed  Google Scholar 

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723–32.

Article  CAS  PubMed  Google Scholar 

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378:625–35.

Article  CAS  PubMed  Google Scholar 

Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, et al. Risdiplam in type 1 spinal muscular atrophy. N Engl J Med. 2021;384:915–23.

Article  CAS  PubMed  Google Scholar 

Mendonça RH, Zanoteli E. Gene therapy in neuromuscular disorders. Arq Neuropsiquiatr. 2022;80:249–56. https://doi.org/10.1590/0004-282X-ANP-2022-S135.

Article  PubMed  PubMed Central  Google Scholar 

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713–22.

Article  CAS  PubMed  Google Scholar 

Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021;20:284–93.

Article  CAS  PubMed  Google Scholar 

Mercuri E, Muntoni F, Baranello G, Masson R, Boespflug-Tanguy O, Bruno C, 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.

Article  CAS  PubMed  Google Scholar 

Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial. Nat Med. 2022;28:1381–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial. Nat Med. 2022;28:1390–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoy SM. Onasemnogene abeparvovec: first global approval. Drugs. 2019;79:1255–62.

Article  CAS  PubMed  Google Scholar 

Feldman AG, Parsons JA, Dutmer CM, Veerapandiyan A, Hafberg E, Maloney N, et al. Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1. J Pediatr. 2020;225:252–8.e1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chand DH, Zaidman C, Arya K, Millner R, Farrar MA, Mackie FE, et al. Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series. J Pediatr. 2020;231:265–8.

Article  PubMed  Google Scholar 

Chand D, Mohr F, McMillan H, Tukov FF, Montgomery K, Kleyn A, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy. J Hepatol. 2021;74:560–66.

Article  CAS  PubMed  Google Scholar 

Kichula EA, Proud CM, Farrar MA, Kwon JM, Saito K, Desguerre I, et al. Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Muscle Nerve. 2021;64:413–27.

Article  PubMed  PubMed Central  Google Scholar 

Mercuri E, Lucibello S, Perulli M, Coratti G, de Sanctis R, Pera MC, et al. Longitudinal natural history of type I spinal muscular atrophy: a critical review. Orphanet J Rare Dis. 2020;15:84.

Article  PubMed  PubMed Central  Google Scholar 

WHO Multicentre Growth Reference Study Group. WHO motor development study: windows of achievement for six gross motor development milestones. Acta Paediatr. 2006;450:86–95.

Article  Google Scholar 

Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, et al. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. Lancet Child Adolesc Health. 2022;6:17–27.

Article  PubMed  Google Scholar 

Bitetti I, Lanzara V, Margiotta G, Varone A. Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study. Gene Ther. 2023;30:592–597.

de Holanda Mendonça R, Jorge Polido G, Ciro M, Jorge Fontoura Solla D, Conti Reed U, Zanoteli E. Clinical outcomes in patients with spinal muscular atrophy type 1 treated with nusinersen. J Neuromuscul Dis. 2021;8:217–24.

Article  PubMed  Google Scholar 

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, et al. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023;146:668–677.

Weststrate H, Stimpson G, Thomas L, Scoto M, Johnson E, Stewart A, et al. Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen. Dev Med Child Neurol. 2022;64:907–14.

Article  PubMed  PubMed Central  Google Scholar 

D’Silva AM, Holland S, Kariyawasam D, Herbert K, Barclay P, Cairns A, et al. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy. Ann Clin Transl Neurol. 2022;9:339–50. https://doi.org/10.1002/acn3.51519.

Article  PubMed  PubMed Central  Google Scholar 

Mirea A, Shelby ES, Axente M, Badina M, Padure L, Leanca M, et al. Combination therapy with nusinersen and onasemnogene abeparvovec-xioi in spinal muscular atrophy type I. J Clin Med. 2021;10:5540.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Waldrop MA, Karingada C, Storey MA, Powers B, Iammarino MA, Miller NF, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes. Pediatrics 2020;146:e20200729. https://doi.org/10.1542/peds.2020-0729.

Article  PubMed  Google Scholar 

Mendell JR, Al-Zaidy SA, Lehman KJ, McColly M, Lowes LP, Alfano LN, et al. Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy. JAMA Neurol. 2021;78:834–41.

Article  PubMed  Google Scholar 

Philippidis A. Novartis confirms deaths of two patients treated with gene therapy zolgensma. Hum Gene Ther. 2022;33:842–4.

Article  CAS  PubMed  Google Scholar 

Matsumura-Kimoto Y, Inamoto Y, Tajima K, Kawajiri A, Tanaka T, Hirakawa T, et al. Association of cumulative steroid dose with risk of infection after treatment for severe acute graft-versus-host disease. Biol Blood Marrow Transplant. 2016;22:1102–7.

Article  CAS  PubMed  Google Scholar 

Davies HD, Committee on Infectious Diseases. Infectious complications with the use of biologic response modifiers in infants and children. Pediatrics 2016;138:e20161209.

Article  PubMed  Google Scholar 

Chand DH, Mitchell S, Sun R, LaMarca N, Reyna SP, Sutter T. Safety of onasemnogene abeparvovec for patients with spinal muscular atrophy 8.5 kg or heavier in a global managed access program. Pediatr Neurol. 2022;132:27–32.

Article  PubMed  Google Scholar 

Yazaki K, Sakuma S, Hikita N, Fujimaru R, Hamazaki T. Child