ESPE Abstracts

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...

Introduction: Achondroplasia is the most common skeletal dysplasia, in which the main clinical feature is short stature. Vosoritide, the first specific treatment for achondroplasia; administered as a daily subcutaneous injection, was approved by the European Medicines Agency in August 2021 for patients aged ≥2 years until closure of epiphyses. French Health Authorities granted early access to vosoritide treatment in France on 24 June 2021, which continued u...

Introduction: Achondroplasia is the most common skeletal dysplasia, caused by a pathogenic FGFR3 variant, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was first approved by the European Medicines Agency in August 2021 and is now approved for treating genetically-confirmed achondroplasia in patients aged ≥4 months until closure of epiphys...

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Objectives: Achondroplasia (ACH) is characterized by disproportionate short stature and is associated with medical complications and functional constraints. Infigratinib is an oral FGFR3 inhibitor that targets overactive FGFR3 signaling at its origin and is under development as a treatment option for children with ACH. We report Month 18 results from PROPEL 2 (NCT04265651), a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluat...