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Advances in the management of achondroplasia

The first precision therapy for children with achondroplasia, vosoritide, is now approved in many regions, including Australia, the USA, the European Union and Japan. This article discusses the recent trial results for this therapy regarding growth and the co-morbidities associated with achondroplasia and considers the rationale for its clinical use.

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References

  1. Hoover-Fong, J. et al. Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone 146, 115872 (2021).

    Article  CAS  PubMed  Google Scholar 

  2. Shiang, R. et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335–342 (1994).

    Article  CAS  PubMed  Google Scholar 

  3. Savarirayan, R. et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat. Rev. Endocrinol. 18, 173–189 (2022).

    Article  PubMed  Google Scholar 

  4. Savarirayan, R. et al. C-type natriuretic peptide analogue therapy in children with achondroplasia. N. Engl. J. Med. 381, 25–35 (2019).

    Article  CAS  PubMed  Google Scholar 

  5. Savarirayan, R. et al. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet 396, 684–692 (2020).

    Article  CAS  PubMed  Google Scholar 

  6. Savarirayan, R. et al. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Child Adolesc. Health 8, 40–50 (2024).

    Article  CAS  PubMed  Google Scholar 

  7. Savarirayan, R. et al. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet. Med. 23, 2443–2447 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Savarirayan, R. et al. Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery. Sci. Prog. 104, 368504211003782 (2021).

    Article  CAS  PubMed  Google Scholar 

  9. Savarirayan, R., Hoover-Fong, J., Yap, P. & Fredwall, S. O. New treatments for children with achondroplasia. Lancet Child Adolesc. Health 8, 301–310 (2024).

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Ravi Savarirayan.

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Competing interests

R.S. has received honoraria from BioMarin, QED pharma, Ascendis and Sanofi.

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Savarirayan, R. Advances in the management of achondroplasia. Nat Rev Endocrinol 20, 443–444 (2024). https://doi.org/10.1038/s41574-024-00994-w

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