hrp0097p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Effects of romosozumab on bone ultrastructure and density in a patient with primary osteoporosis caused by a novel heterozygous WNT1 mutation

Montero-Lopez Rodrigo , Blaschitz Alexandra , Tischlinger Katharina , Wimleitner Marlene , Hörtenhuber Thomas , Klinger Markus , Cejka Daniel , Högler Wolfgang

Background: Genetic defects in the Wnt signaling pathway lead to early-onset osteoporosis (EOOP). Romosozumab is a monoclonal antibody against sclerostin, an inhibitor of the Wnt/ß-catenin pathway. Romosozumab has shown great efficacy in adult osteoporosis, however its effect in patients with Wnt-related EOOP is unknown. In monoallelic loss-of-function WNT1 mutations, romosozumab could potentially stimulate the defective Wnt signaling pathway an...