Retrospective Evaluation of Patients with Achondroplasia Receiving Vosoritide Treatment: A Single-Center Experience

Vosoritide treatment showed significant improvements in height z-scores and annual growth velocity in children with achondroplasia, but the clinical relevance of these findings should be interpreted cautiously.

Summary and findings

This study evaluated the effects of vosoritide on growth parameters in 11 children with achondroplasia over at least 12 months. Improvements were noted in height z-scores and annual growth velocity. Adverse effects were mild and included injection site pain and transient nausea.

Abstract

<title>Abstract</title> <p>Purpose Vosoritide, a recombinant C-type natriuretic peptide analog, is the first targeted pharmacological therapy developed for achondroplasia. This study aimed to evaluate changes in annualized growth velocity, height, weight, body mass index z-score, arm span, sitting height-to-height ratio, and head circumference, as well as treatment-related adverse effects, in children with achondroplasia receiving vosoritide therapy. Methods This retrospective observational study included 11 children with genetically confirmed achondroplasia who had received vosoritide for at least 12 months. Height, weight, sitting height, head circumference, and arm span were recorded at baseline and follow-up visits. Z-scores were calculated using both general population and achondroplasia-specific reference data. Results The study cohort comprised 11 patients (7 females, four males) with a mean age of 3.6 ± 1.5 years at treatment initiation. Significant improvements in several anthropometric parameters were observed after treatment. The achondroplasia-specific height z-score improved from − 0.16 to 0.07 (p = 0.003), while the general population height z-score increased from − 5.32 to − 5.10 (p = 0.040). The sitting height-to-height ratio decreased slightly but significantly (p = 0.046). No significant changes were detected in weight z-score, BMI, BMI z-score, head circumference z-score, or arm span-to-height ratio (p > 0.05). No patients discontinued treatment due to adverse effects; mild injection site pain and transient nausea were the only reported events. Conclusion Vosoritide therapy significantly increased growth velocity, with a median AGV of 5.89 cm/year, consistent with findings from Phase 3 trials and real-world studies. Vosoritide treatment significantly improves growth outcomes in children with achondroplasia and is well tolerated.</p>

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