Skip to main content

Thank you for visiting nature.com. 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.

  • Journal Club
  • Published:

Is treatment with oral risdiplam effective and well-tolerated for infants with spinal muscular atrophy type 1?

Journal of Perinatology volume 42, pages 689–691 (2022)Cite this article

Subjects

Treatment/safety– exploratory dose-finding study.

In infants with symptomatic, genetically confirmed, Type 1 spinal muscular atrophy (SMA), does risdiplam increase the amount of functional survival motor neuron (SMN) protein in the blood, and at what dose is risdiplam exposure safe and well-tolerated?

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

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

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

References

  1. Sergott RC, Amorelli GM, Baranello G, Barreau E, Beres S, Kane S, et al. FIREFISH, SUNFISH, JEWELFISH Working Groups. Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Ann Clin Transl Neurol. 2021;8:54–65. Epub 2020 Nov 24

    Article  CAS  Google Scholar 

  2. Szollosi A, Donkin C. Arrested theory development: the misguided distinction between exploratory and confirmatory research. Perspect Psychol Sci. 2021;16:717–24. Epub 2021 Feb 16

    Article  Google Scholar 

  3. 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. FIREFISH Working GroupEpub 2021 Feb 24

    Article  CAS  Google Scholar 

  4. Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, et al. Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls. N Engl J Med. 2021;385:427–35. FIREFISH Working Group

    Article  CAS  Google Scholar 

  5. Pallmann P, Bedding AW, Choodari-Oskooei B, Dimairo M, Flight L, Hampson LV, et al. Adaptive designs in clinical trials: why use them, and how to run and report them. BMC Med. 2018;16:29.

    Article  Google Scholar 

  6. Lash TL, Vandenbroucke JP. Should preregistration of epidemiologic study protocols become compulsory? Reflections and a counterproposal. Epidemiology. 2012;23:184–8.

    Article  Google Scholar 

  7. Harvey LA. Trial registration: a pre-requisite for publication and an ethical responsibility. Spinal Cord. 2017;55:329–30.

    Article  CAS  Google Scholar 

  8. Vandenbroucke JP. Preregistration of epidemiologic studies: an ill-founded mix of ideas. Epidemiology. 2010;21:619–20.

    Article  Google Scholar 

Download references

Acknowledgements

The Journal Club is a collaboration between the American Academy of Pediatrics – Section on Neonatal Perinatal Medicine and the International Society for Evidence-based Neonatology (EBNEO.org).

Author information

Authors and Affiliations

  1. Division of Neonatology, Department of Pediatrics, LAC+USC Medical Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA

    Sheema Gaffar, Rowena Cayabyab & Rangasamy Ramanathan

Authors
  1. Sheema Gaffar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rowena Cayabyab
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rangasamy Ramanathan
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors contributed equally towards initial conception and design, data analysis and interpretation, and manuscript composition and final approval.

Corresponding author

Correspondence to Sheema Gaffar.

Ethics declarations

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Gaffar, S., Cayabyab, R. & Ramanathan, R. Is treatment with oral risdiplam effective and well-tolerated for infants with spinal muscular atrophy type 1?. J Perinatol 42, 689–691 (2022). https://doi.org/10.1038/s41372-021-01301-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41372-021-01301-5

Search

Advanced search

Quick links