Savarirayan, RaviIrving , MelitaHarmatz, PaulDelgado, BorjaWilcox, William R.Philips, JohnOwen, NatalieBacino, Carlos A.Tofts, LouiseCharrow, JoelPolgreen, Lynda E.Hoover-Fong , JulieArundel , PaulGinebreda , IgnacioBasel , DonaldFont, Rosendo UllotOzono , KeiichiBober, Michael B.Cormier-Daire, ValerieSang, Kim-Hanh Le QuanBaujat, GenevieveAlanay, YaseminRutsch, FrankHoernschemeyer, DanielMohnike, KlausMochizuki, HiroshiTajima, AsakoKotani , YumikoWeaver , David D.White , Klane K.Army, ClareLarrimore, KevinGregg, KeithJeha , GeorgeMilligan , ClaireFisheleva , ElenaHuntsman-Labed , AliceDay, Jonathan2024-05-092024-05-092022-12Savarirayan, R., Irving, M., Harmatz, P., Delgado, B., Wilcox, W. R., Philips, J., Owen, N., Bacino, C. A., Tofts, L., Charrow, J., Polgreen, L. E., Hoover-Fong, J., Arundel, P., Ginebreda, I., Saal, H. M., Basel, D., Font, R. U., Ozono, K., Bober, M. B., … Day, J. (2022). Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in Medicine, 24(12), 2444–2452. https://doi.org/10.1016/j.gim.2022.08.015https://hdl.handle.net/1805/40613Purpose: This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control. Methods: In this prospective, observational study, participants (≤17 years) underwent a detailed medical history and physical examination and were followed every 3 months until they finished participating in the study by enrolling in an interventional trial or withdrawing. Results: A total of 363 children were enrolled (28 centers, 8 countries). Mean (SD) follow up was 20.4 (15.0) months. In participants <1 year, mean annualized growth velocity (AGV) was 11.6 cm/year for girls and 14.6 cm/year for boys. By age 1 year, mean AGV decreased to 7.4 cm/year in girls and 7.1 cm/year in boys. By age 10 years, mean AGV decreased to 3.6 cm/year for both sexes. Mean height z-score in participants <1 year was -2.5 for girls and -3.2 for boys and decreased up to the age 5 years (-5.3 for girls; -4.6 for boys). Girls and boys had a disproportionate upper-to-lower body segment ratio. Mean ratio was highest in participants aged <1 year (2.9 for girls; 2.8 for boys) and decreased gradually to approximately 2 in both sexes from 4 years of age onward. Conclusion: This study represents one of the largest datasets of prospectively collected medical and longitudinal growth data in children with achondroplasia. It serves as a robust historical control to measure therapeutic interventions against and to further delineate the natural history of this condition.en-USAttribution-NonCommercial-NoDerivatives 4.0 InternationalAchondroplasiaAnnualized growth velocityAnthropometricsObservationalPediatricsArticle