Browsing by Author "Tofts, Louise"

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    Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
    (ACMG, 2022-12) Savarirayan, Ravi; Irving , Melita; Harmatz, Paul; Delgado, Borja; Wilcox, William R.; Philips, John; Owen, Natalie; Bacino, Carlos A.; Tofts, Louise; Charrow, Joel; Polgreen, Lynda E.; Hoover-Fong , Julie; Arundel , Paul; Ginebreda , Ignacio; Basel , Donald; Font, Rosendo Ullot; Ozono , Keiichi; Bober, Michael B.; Cormier-Daire, Valerie; Sang, Kim-Hanh Le Quan; Baujat, Genevieve; Alanay, Yasemin; Rutsch, Frank; Hoernschemeyer, Daniel; Mohnike, Klaus; Mochizuki, Hiroshi; Tajima, Asako; Kotani , Yumiko; Weaver , David D.; White , Klane K.; Army, Clare; Larrimore, Kevin; Gregg, Keith; Jeha , George; Milligan , Claire; Fisheleva , Elena; Huntsman-Labed , Alice; Day, Jonathan; Medical and Molecular Genetics, School of Medicine
    Purpose: 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.