Real-world evidence of vosoritide treatment in children under 2 years of age with achondroplasia in Colombia: a cases series

Vosoritide treatment appears feasible and safe for children under 2 years with achondroplasia, but results should be interpreted cautiously due to the small sample size and treatment interruptions.

Summary and findings

This study evaluated the clinical characteristics and treatment patterns of five Colombian children under 2 years of age with achondroplasia treated with vosoritide. The mean age at last evaluation was 25.2 months, with treatment initiation occurring between infancy and early toddlerhood. No serious adverse events were reported directly attributable to vosoritide, and growth was maintained within achondroplasia-specific reference ranges during follow-up.

Abstract

<title>Abstract</title> <p> Introduction: Achondroplasia is the most common skeletal dysplasia and is associated with significant medical complications and impaired linear growth. Vosoritide is the first targeted therapy approved for achondroplasia; however, real-world data in children younger than 2 years of age are scarce, particularly in Latin America. <h4>Objectives:</h4> To describe the real-world clinical characteristics, treatment patterns, short-term safety profile, and early growth trajectories of outcomes of Colombian children younger than 2 years of age with genetically confirmed achondroplasia, treated with vosoritide. <h4>Materials and Methods:</h4> We conducted a descriptive real-world cohort study including pediatric patients with molecularly confirmed achondroplasia who initiated vosoritide treatment before 24 months of age in Colombia. Clinical, anthropometric, neurodevelopmental, radiologic, respiratory, neurologic, and treatment-related variables were collected from routine clinical practice records. Variables analyzed included age at clinical diagnosis, age at molecular confirmation, age at treatment initiation, time from treatment request to effective drug access, treatment exposure and continuity, growth trajectory, adverse events, disease-related complications, and reasons for treatment interruption. Growth outcomes were interpreted using achondroplasia-specific growth references rather than general population standards. <h4>Results:</h4> Five female patients with genetically confirmed achondroplasia caused by the <italic>FGFR3</italic> :c.1138G > A;(p.Gly380Arg) variant were included. Mean age at last evaluation was 25.2 months (range 17–30 months). Diagnosis was confirmed early in life in all patients, with molecular confirmation occurring between 2 and 10 months after birth. Vosoritide treatment was initiated between infancy and early toddlerhood. Delays between treatment request and effective drug initiation ranged from 90 to 180 days. Most patients demonstrated maintenance of growth within achondroplasia-specific reference ranges during follow-up. Treatment continuity was significantly affected by medication dispensing interruptions in several patients. No serious adverse events directly attributable to vosoritide were identified. Reported adverse events were mild and mainly occurred during initial administration, including nausea, hirsutism and elevation of alkaline phosphatase. No patient permanently discontinued therapy because of adverse effects. Several disease-related complications associated with achondroplasia were identified during follow-up, including sleep apnea, cervicomedullary stenosis, myelomalacia, hearing abnormalities, and respiratory infections requiring hospitalization. Neurodevelopmental progression was generally appropriate for age. <h4>Conclusion:</h4> This Colombian real-world cohort provides preliminary evidence supporting the feasibility and short-term safety of vosoritide treatment in children younger than 2 years with achondroplasia. The findings also highlight important barriers to timely access and treatment continuity in routine clinical practice. Given the small sample size, limited follow-up, and treatment interruptions, conclusions regarding growth efficacy should be interpreted with caution. Larger longitudinal studies are needed to evaluate long-term growth outcomes, body proportionality, neurologic impact, respiratory morbidity, functional outcomes, and the potential clinical benefits of early vosoritide initiation. </p>

Limitations

Not reported in abstract.

Elsewhere in the Vosoritide corpus