Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc2.1 | Bone and Calcium | ECE2020

Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia

Zhukouskaya Volha , Mannes Ines , Chaussain Catherine , Audrain Christelle , Lambert Anne-Sophie , Adamsbaum Catherine , Kamenicky Peter , Nevoux Jerome , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Séverine , Prié Dominique , Di Somma Carolina , Colao Annamaria , Rothenbuhler Anya , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX mutation, leading to elevated FGF23, renal phosphate wasting, hypophosphatemia, insufficient 1,25(OH)2D synthesis. Clinically, it manifests with rickets including leg deformities, poor growth, dental abscesses, craniosynostosis, and hearing loss. Beyond conventional treatment (phosphate supplements + active vitamin D), burosumab is pathogenetic anti-FGF23 therapeutic approa...

ea0073oc6.2 | Oral Communications 6: Calcium and Bone | ECE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Séverine , Leborgne Christian , Hilliquin Stéphane , Sadoine Jérémy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnès , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Adeno‚Äźassociated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitati...