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Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. ...Different guidelines and recommendations have be …
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of …
New treatments for children with achondroplasia.
Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO. Savarirayan R, et al. Lancet Child Adolesc Health. 2024 Apr;8(4):301-310. doi: 10.1016/S2352-4642(23)00310-3. Lancet Child Adolesc Health. 2024. PMID: 38485412 Review.
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. ...These new options are changing the natu …
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and …
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ. Murton MC, et al. Adv Ther. 2023 Sep;40(9):3639-3680. doi: 10.1007/s12325-023-02549-3. Epub 2023 Jun 29. Adv Ther. 2023. PMID: 37382866 Free PMC article.
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack …
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management re …
Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.
Merchant N, Hoover-Fong J, Carroll RS. Merchant N, et al. J Clin Endocrinol Metab. 2025 Jun 17;110(7):e2309-e2316. doi: 10.1210/clinem/dgaf017. J Clin Endocrinol Metab. 2025. PMID: 39813116 Free PMC article. Review.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. ...Recently, vosoritide, a C-type natriuretic peptide analogue, was …
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia a …
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Lancet Child Adolesc Health. 2024 Jan;8(1):40-50. doi: 10.1016/S2352-4642(23)00265-1. Epub 2023 Nov 18. Lancet Child Adolesc Health. 2024. PMID: 37984383 Clinical Trial.
BACKGROUND: Vosoritide is a recombinant C-type natriuretic peptide analogue that increases annualised growth velocity in children with achondroplasia aged 5-18 years. We aimed to assess the safety and efficacy of vosoritide in infants and children younger than 5 years. ... …
BACKGROUND: Vosoritide is a recombinant C-type natriuretic peptide analogue that increases annualised growth velocity in children with ac …
Oral Infigratinib Therapy in Children with Achondroplasia.
Savarirayan R, De Bergua JM, Arundel P, Salles JP, Saraff V, Delgado B, Leiva-Gea A, McDevitt H, Nicolino M, Rossi M, Salcedo M, Cormier-Daire V, Skae M, Kannu P, Phillips J 3rd, Saal H, Harmatz P, Candler T, Hill D, Muslimova E, Weng R, Bai Y, Raj S, Hoover-Fong J, Irving M, Rogoff D. Savarirayan R, et al. N Engl J Med. 2025 Feb 27;392(9):865-874. doi: 10.1056/NEJMoa2411790. Epub 2024 Nov 18. N Engl J Med. 2025. PMID: 39555818 Clinical Trial.
BACKGROUND: Achondroplasia is a genetic skeletal condition that results in disproportionately short stature and medical complications throughout life. Infigratinib is an orally bioavailable FGFR1-3 selective tyrosine kinase inhibitor in development for achondroplasia …
BACKGROUND: Achondroplasia is a genetic skeletal condition that results in disproportionately short stature and medical complications …
International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
Savarirayan R, Hoover-Fong J, Ozono K, Backeljauw P, Cormier-Daire V, DeAndrade K, Ireland P, Irving M, Llerena Junior J, Maghnie M, Menzel M, Merchant N, Mohnike K, Iruretagoyena SN, Okada K, Fredwall SO. Savarirayan R, et al. Nat Rev Endocrinol. 2025 May;21(5):314-324. doi: 10.1038/s41574-024-01074-9. Epub 2025 Jan 6. Nat Rev Endocrinol. 2025. PMID: 39757323 Review.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). ...These guidelines recommend a minimum set of requirements and a practical framework for professionals and health services worldwide regarding the use of vosoritide to treat infa …
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). ...These guidelines recommend a minimum …
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.
INTRODUCTION: Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. Sharing early prescribing experiences across different regions could provide a framework for developing practical guidance for the real-wor …
INTRODUCTION: Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. …
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS. Savarirayan R, et al. Med. 2025 May 9;6(5):100566. doi: 10.1016/j.medj.2024.11.019. Epub 2024 Dec 30. Med. 2025. PMID: 39740666 Free article. Clinical Trial.
BACKGROUND: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in unt …
BACKGROUND: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondr …
Discovery of TYRA-300: First Oral Selective FGFR3 Inhibitor for the Treatment of Urothelial Cancers and Achondroplasia.
Hudkins RL, Allen E, Balcer A, Hoffman ID, Iyer S, Neal M, Nelson KJ, Rideout M, Ye Q, Starrett JH, Patel P, Harris T, Swanson RV, Bensen DC. Hudkins RL, et al. J Med Chem. 2024 Sep 26;67(18):16737-16756. doi: 10.1021/acs.jmedchem.4c01531. Epub 2024 Sep 11. J Med Chem. 2024. PMID: 39258897
FGFR3 germline mutations have also been associated with a variety of skeletal dysplasias. Achondroplasia, the most common form of dwarfism in humans, results from a G380R mutation in FGFR3. ...TYRA-300 is being evaluated in a Phase 1 clinical trial in urothelial cancers an …
FGFR3 germline mutations have also been associated with a variety of skeletal dysplasias. Achondroplasia, the most common form of dwa …
205 results