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

@article{castro2026vosoritide,
  title = {{Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia}},
  author = {Luiz Claudio Gonçalves de Castro and Julienne Angela Ramires de Carvalho and Crésio de Aragão Dantas Alves and Têmis Maria Félix and Ana Paula Bordallo and Ricardo Fernando Arrais and Erlane Marques Ribeiro and Paula Frassinetti Vasconcelos de Medeiros and Ivana van der Linden Nader and Lena Stilianidi Garcia and Wagner Antonio da Rosa Baratela and Genoir Simoni and Guido de Paula Colares Neto and Rodrigo Ambrosio Fock and Louise Cominato and Paulo Ferrez Collett-Solberg and Kênia Maria de Souza Rio and Juliana Lopes Yamin and Juan Clinton Llerena Jr},
  journal = {Orphanet Journal of Rare Diseases},
  year = {2026},
  month = aug,
  doi = {10.1186/s13023-026-04519-8},
  url = {https://doi.org/10.1186/s13023-026-04519-8},
  note = {CC BY 4.0},
}

TY  - JOUR
TI  - Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
AU  - Luiz Claudio Gonçalves de Castro
AU  - Julienne Angela Ramires de Carvalho
AU  - Crésio de Aragão Dantas Alves
AU  - Têmis Maria Félix
AU  - Ana Paula Bordallo
AU  - Ricardo Fernando Arrais
AU  - Erlane Marques Ribeiro
AU  - Paula Frassinetti Vasconcelos de Medeiros
AU  - Ivana van der Linden Nader
AU  - Lena Stilianidi Garcia
AU  - Wagner Antonio da Rosa Baratela
AU  - Genoir Simoni
AU  - Guido de Paula Colares Neto
AU  - Rodrigo Ambrosio Fock
AU  - Louise Cominato
AU  - Paulo Ferrez Collett-Solberg
AU  - Kênia Maria de Souza Rio
AU  - Juliana Lopes Yamin
AU  - Juan Clinton Llerena Jr
PY  - 2026
DA  - 2026/08/06
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04519-8
UR  - https://doi.org/10.1186/s13023-026-04519-8
AB  - 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.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04519-8.
SN  - 1750-1172
ER  -