ESPEYB21 5. Bone, Growth Plate and Mineral Metabolism Novel Treatments (7 abstracts)
5.11. Vosoritide treatment for children with hypochondroplasia: a phase 2 trial
Andrew Dauber , Anqing Zhang , Roopa Kanakatti Shankar , Kimberly Boucher , Tara McCarthy , Niusha Shafaei , Raheem Seaforth , Meryll Grace Castro , Niti Dham & Nadia Merchant
EClinicalMedicine 2024; 71:102591. doi: 10.1016/j.eclinm.2024.102591
In brief: This single-arm, open-label, single-centre, Phase 2 study in the US examined the safety and efficacy of vosoritide, a recombinant C-type natriuretic peptide (CNP) analogue, in 26 children with hypochondroplasia. Height SDS increased by (mean) 0.36 during the 12-month treatment period versus the observation period. The study was sponsored by BioMarin Pharmaceutical.
Commentary: Hypochondroplasia is a rare skeletal dysplasia that manifests mainly as disproportionate short stature and relative macrocephaly, and occasionally mild orthopaedic manifestations such as tibial bowing and limited elbow extension. As achondroplasia, hypochondroplasia is caused by a gain-of-function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which leads to increased activation of the RAS/mitogen-activated protein kinase (MAPK) pathway in chondrocytes, resulting in impaired endochondral ossification and short stature. Individuals with hypochondroplasia have different genetic variants in the FGFR3 gene than those seen in individuals with achondroplasia, although their clinical spectrum can overlap, with hypochondroplasia generally being less severe. Vosoritide is a recombinant C-type natriuretic peptide (CNP) analogue that has been reported to increase annualised growth velocity in children with achondroplasia; this compound is now approved for the treatment of children with achondroplasia in the US/Canada and Europe. Given the pathophysiological mechanisms shared with achondroplasia (activation of the RAS/ MAPK pathway), it was logical to evaluate the efficacy of vosoritide in hypochondroplasia.
This study provides preliminary evidence of the efficacy of vosoritide in improving growth in children with hypochondroplasia with a relatively benign side effect profile. Further studies are needed to determine the long-term effects of vosoritide in children with hypochondroplasia.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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