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).
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).
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