Achondroplasia is the most common genetic skeletal dysplasia, caused by activating mutations in the FGFR3 gene that impair endochondral ossification and result in disproportionate short stature. Vosoritide (VOXZOGO®), a C-type natriuretic peptide analog, is the first targeted therapy approved for achondroplasia and acts by antagonizing FGFR3 signaling to promote bone growth. This review evaluates current clinical evidence on the efficacy, safety, and long-term potential of vosoritide in children with achondroplasia. A structured literature search of PubMed and Embase was conducted using the terms "Achondroplasia" and "Vosoritide" or "Voxzogo". We included clinical trials and extensions, observational studies, real-world reports, and case reports published between May 2018 and May 2025 while excluding articles that focused on guidelines for the clinical application of Vosoritide. Phase II and III trials indicate that daily subcutaneous vosoritide (15 μg/kg) increases annualized growth velocity (AGV) by approximately 1.5-2.0 cm/year compared to placebo. Extension studies have demonstrated sustained growth over seven years. Twelve-month retrospective studies from France, Germany, and Japan have independently observed similar increases in linear growth. Trials also report improvements in body proportions and craniofacial development. At the same time, retrospective studies have shown a reduction in lumbar lordosis and leg bowing, as well as improvement in six-minute walk distance and potential benefit in daily function. Common adverse effects include mild injection site reactions and transient hypotension in infants. Treatment with vosoritide may improve long-term outcomes for children with achondroplasia when compared with the current pharmacological standard of care. Ongoing studies are expected to clarify its effects on adult height, potential effects on skeletal deformities, and overall quality of life.
Keywords: achondroplasia; fgfr3; growth hormone alternatives; rare autosomal dominant skeletal dysplasia; skeletal dysplasia; vosoritide.
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