hrp0098p1-264 | Growth and Syndromes 4 | ESPE2024

Single center prospective study on the Efficacy and Safety of Vosoritide Therapy in Achondroplasia: A Comprehensive Evaluation at Three and Six Months

Leonardi Roberta , Rapisarda Gianvito , Costanza Giuseppe , Leone Guido , Caruso Nicoletti Manuela

Background: Achondroplasia is the most common form of osteochondrodysplasia, characterized by abnormal bone and cartilage growth leading to dwarfism and short limbs. It is caused by autosomal dominant mutations in the FGFR3 gene, leading to constitutive activation of the FGFR3 receptor, inhibiting chondrocyte proliferation and disrupting normal bone growth. Vosoritide is a 39-amino acid CNP peptide analogue, indicated for treating achondroplasia in patients ov...