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NEURODEGENERATIVE DISEASE

Early treatment is a lifeline for infants with SMA

Nature Medicine volume 28, pages 1348–1349 (2022)Cite this article

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In the phase 3 SPR1NT trial, pre-symptomatic gene therapy demonstrated impressive clinical outcomes in infants with a genetic diagnosis of spinal muscular atrophy (SMA); long-term safety follow-up of these patients must now be a key priority.

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Fig. 1: OA for presymptomatic spinal muscular atrophy.

References

  1. Strauss, K. A. et al. Nat. Med. https://doi.org/10.1038/s41591-022-01866-4 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  2. Strauss, K. A. et al. Nat. Med. https://doi.org/10.1038/s41591-022-01867-3 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  3. Day, J. W. et al. Lancet Neurol. 20, 284–293 (2021).

    Article  CAS  Google Scholar 

  4. Mercuri, E. et al. Lancet Neurol. 20, 832–841 (2021).

    Article  CAS  Google Scholar 

  5. De Vivo, D. C. et al. Neuromuscul. Disord. 29, 842–856 (2019).

    Article  Google Scholar 

  6. Finkel, R. S. et al. Neurology 96, 4281 (2021).

    Google Scholar 

  7. Kong, L. et al. Sci. Transl. Med. 13, eabb6871 (2021).

    Article  Google Scholar 

  8. Uchitel, J. et al. Pediatric Neurol. 110, 5–9 (2020).

    Article  Google Scholar 

  9. Crawford, T. O. & Sumner, C. J. J. Clin. Invest. 131, e152817 (2021).

    Article  CAS  Google Scholar 

  10. Long Term Follow-up After Administration of Human Gene Therapy Products (FDA, 2020).

  11. Das, A. et al. J. Virol. 96, e0203921 (2022).

    Article  Google Scholar 

  12. Thomsen, G. et al. Nat. Med. 27, 1701–1711 (2021).

    Article  CAS  Google Scholar 

  13. Ramos, D. M. et al. J. Clin. Invest. 129, 4817–4831 (2019).

    Article  CAS  Google Scholar 

Download references

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Authors and Affiliations

  1. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Charlotte J. Sumner & Thomas O. Crawford

  2. Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Charlotte J. Sumner

  3. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Thomas O. Crawford

Authors
  1. Charlotte J. Sumner
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  2. Thomas O. Crawford
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Correspondence to Charlotte J. Sumner.

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Competing interests

C.J.S. has been a consultant for Novartis, Ionis Pharmaceuticals, Biogen, PTC Therapeutics, Roche, Genentech, Cytokinetics, Sarepta, Nura Bio, Atalanta, Shift, Argenx, Biomarin, Scholar Rock, GenEdit, Epirium, and Capsigen. C.J.S. has received research grant from Ionis Pharmaceuticals and currently receives grant support from Roche and Biogen. C.J.S. is a coholder of 2 pending patent applications (BIOL0274USA and BIOL0293WO) with Ionis Pharmaceuticals for antisense oligonucleotides targeting SMN-AS1. C.J.S. receives royalties from Elsevier for the book Spinal Muscular Atrophy: Disease Mechanisms and Therapy (eds Sumner, C. J., Paushkin, S. & Ko, C. P.; Elsevier, 2017). T.O.C. has been a consultant for Avexis/Novartis, Biogen, Catalyst, Cytokinetics, Erydel, Genentech, Ionis, and Scholar Rock. He is/has been a site principal or co-principal investigator for the Biogen EMBRACE, NURTURE, and DEVOTE clinical trials, the Avexis/Novartis STR1VE and STRONG clinical trials, and individual clinical trials with Catabasis, Catalyst, Cytokinetics, Santherra, and Sarepta.

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Sumner, C.J., Crawford, T.O. Early treatment is a lifeline for infants with SMA. Nat Med 28, 1348–1349 (2022). https://doi.org/10.1038/s41591-022-01889-x

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