Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia

Background Achondroplasia is the most common non-lethal disproportionate skeletal dysplasia and is associated with significant lifelong medical, functional, and psychosocial complications. Advancements in the understanding of its molecular pathogenesis have facilitated the development of targeted therapies. Vosoritide, the first precision pharmacological intervention, has been shown to significantly enhance annualized growth velocity and improve body proportionality in pediatric patients with open epiphyseal plates. Currently, vosoritide is the only disease-modifying therapy approved by the Brazilian Health Regulatory Agency for the treatment of patients with achondroplasia and open growth plates. Thus, this Consensus Statement was developed to provide evidence-based, context-specific guidance for the diagnosis, monitoring, and management of individuals with achondroplasia treated with vosoritide. A multidisciplinary Guideline Development Group (GDG), comprising specialists from multiple regions of Brazil and patient representatives, formulated recommendations through a structured process that included literature review, expert discussion, and a two-round Delphi survey. Results The final consensus presents comprehensive recommendations spanning pre-treatment evaluation, initiation criteria, dose selection, education and consent, monitoring, dose adjustment, discontinuation, and post-treatment follow-up. Key principles include confirmation of diagnosis through genetic testing, early initiation of vosoritide in eligible patients, systematic assessment of growth, complications, and quality of life, ongoing multidisciplinary care throughout life, and shared decision-making with patients and caregivers. Conclusions This consensus aims to support uniform, high-quality clinical practice across Brazil, promote the safe and effective use of vosoritide, and improve long-term outcomes for individuals with achondroplasia. Clinical trial number Not applicable.