Real-world outcome of vosoritide treatment in children with achondroplasia: a 12-month retrospective observational study
Susanna Reincke, Oliver Semler, Shino Junghänel-Welzing, Stefanie Stasek, Mirko Rehberg, Eva Pfeiffer, Heike Hoyer-KuhnAbstract
Context
Vosoritide is the first approved targeted therapy for achondroplasia (ACH) based on increased annualized growth velocity in clinical trials. Aim of our project was an assessment of the real world setting and treatment with vosoritide.
Design
This was a 12-month, retrospective observational study on an inception cohort of 34 patients with achondroplasia treated with vosoritide.
Patients and Methods
34 patients with achondroplasia (22 males; aged 2.8 to 15.3 years at treatment initiation) who received vosoritide treatment for at least 12 months at a specialized clinic for skeletal dysplasia in childhood were included in the analysis. Auxological measurements at baseline and after 12 months of therapy were converted into disease-specific (ACH) and general population (Centers for Disease Control and Prevention - CDC) z-scores. Physical function assessed by 6-minute walk test was converted into z-scores and compared to a healthy reference cohort.
Results
After 12 months of treatment, both ACH and CDC height z-scores showed significant increases, with mean changes (mean±standard deviation (SD)) of 0.52±0.35 and 0.38±0.44, respectively (both p < .0001). Annualized growth velocity exceeded reference values for untreated children with achondroplasia. No significant changes were observed in body mass index (BMI), upper-to-lower body segment ratio (sitting height/height), or head circumference. The 6-minute walking distance improved, with z-scores increasing from -2.00±1.12 to -1.39±1.23 (p = .0215).
Conclusions
In a real-world setting children with achondroplasia showed significant improvements in growth and physical function after 12 months of treatment with vosoritide.