Description
This prospective study serves as a robust historical control to measure therapeutic interventions against and to further delineate the natural history of this condition.
Achondroplasia is the most frequently occurring type of disproportionate short stature, caused by gain-of-function pathogenic variants in the FGFR3 gene. Several new treatments are in development or have recently been approved. To evaluate clinical outcomes for pharmacologic therapies, it is necessary to have good quality longitudinal growth data demonstrating the natural history of the condition.
This prospective, observational study collected baseline growth parameters in 363 children to establish a historical control, prior to any subsequent enrolment in clinical trials. A rapid decline in annualized growth velocity (AGV) was observed up to 2 years, followed by a small steady decline, and a rapid decrease as participants approached their adult height. Consistent with the literature, children in this study also had a disproportionate upper-to-lower body ratio. This study represents one of the largest datasets of prospectively collected medical and longitudinal growth data in children with achondroplasia.
References:
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Ullot Font R, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang K-H, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J Genet Med . 2022 Sep 15;S1098-3600(22)00906-6. doi: 10.1016/j.gim.2022.08.015.