Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:


Early treatment is a lifeline for infants with SMA

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.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: OA for presymptomatic spinal muscular atrophy.


  1. Strauss, K. A. et al. Nat. Med. (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  2. Strauss, K. A. et al. Nat. Med. (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

Author information

Authors and Affiliations


Corresponding author

Correspondence to Charlotte J. Sumner.

Ethics declarations

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.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Sumner, C.J., Crawford, T.O. Early treatment is a lifeline for infants with SMA. Nat Med 28, 1348–1349 (2022).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research