ESPE Abstracts

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...

Introduction: Patients with classic congenital adrenal hyperplasia (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens, usually necessitating supraphysiologic GC doses. CAHtalog™, developed in partnership with CARES Foundation using the PicnicHealth platform, is a real-world US patient registry that characterizes the natural history of classic CAH. This study explored changes in health states ba...