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 

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 

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 

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 

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 

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 

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 

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 

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