{ "abstract": "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.\n\nResults: 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.\n\nConclusions: 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.\n\nClinical trial number: Not applicable.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04519-8.", "abstract_shown": true, "affiliations": [ "Department of Pediatrics, Faculdade de Medicina da Universidade de Brasilia (UnB), Brasilia, Brazil", "Interdisciplinary Laboratory of Biosciences - CT-34/17, Faculdade de Medicina da Universidade de Brasilia (UnB), Campus Universitario Darcy Ribeiro, DF 70910-900 Brasilia, Brazil", "Pediatric Endocrinology Unit, Departament of Pediatrics, Complexo Hospital das Clínicas., Universidade Federal do Paraná (UFPR), Curitiba, Brazil", "Pediatric Endocrinology Unit, Hospital das Clínicas da Faculdade de Medicina, Universidade Federal da Bahia (UFBA), Salvador, Bahia Brazil", "Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS Brazil", "Pediatric Endocrinology Unit, Department of Internal Medicine, Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil", "Pediatric Endocrinology Unit, Department of Pediatrics, Hospital Universitário Professor Onofre Lopes, Universidade Federal do Rio Grande do Norte (UFRN/EBSERH), Natal, Brazil", "Medical Genetics Reference Service, Hospital Infantil Albert Sabin, Fortaleza, Ceará Brazil", "Academic Unit of Medicine, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil", "Associação de Pais e Amigos dos Excepcionais (APAE Anápolis), Anápolis, Goiás Brazil", "Rare Diseases Reference Service and Genetic Counseling Service, Hospital Bettina Ferro de Souza, Complexo Hospitalar Universitário da Universidade Federal do Pará, Belém, Pará Brazil", "Medical Genetics Department, Fleury Group, Hospital Sírio-Libanês, São Paulo, Brazil", "Pediatric Endocrinology Department, Hospital Infantil Joana de Gusmão, Florianópolis, Santa Catarina Brazil", "Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (ICr-HCFMUSP), São Paulo, Brazil", "Center for Medical Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil", "Endocrinology Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (ICr-HCFMUSP), São Paulo, Brazil", "Pediatric Endocrinology Division, Department of Internal Medicine, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, Brazil", "ANNABRA – Associação de Nanismo do Brasil, Rio de Janeiro, Brazil", "Instituto Nacional de Nanismo, Goiânia, Goiás Brazil", "Centro de Genética Médica & Serviço de Referência de Doenças Raras, Instituto Nacional Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil", "Faculdade de Medicina de Petrópolis, UNIFASE, Rio de Janeiro, Brazil" ], "article_type": "review article", "arxiv": null, "author_total": 19, "authors": [ { "affs": [ 0, 1 ], "name": "Luiz Claudio Gonçalves de Castro", "orcid": "0000-0002-9166-1837" }, { "affs": [ 2 ], "name": "Julienne Angela Ramires de Carvalho" }, { "affs": [ 3 ], "name": "Crésio de Aragão Dantas Alves" }, { "affs": [ 4 ], "name": "Têmis Maria Félix" }, { "affs": [ 5 ], "name": "Ana Paula Bordallo" }, { "affs": [ 6 ], "name": "Ricardo Fernando Arrais" }, { "affs": [ 7 ], "name": "Erlane Marques Ribeiro" }, { "affs": [ 8 ], "name": "Paula Frassinetti Vasconcelos de Medeiros" }, { "affs": [ 9 ], "name": "Ivana van der Linden Nader" }, { "affs": [ 10 ], "name": "Lena Stilianidi Garcia" }, { "affs": [ 11 ], "name": "Wagner Antonio da Rosa Baratela" }, { "affs": [ 12 ], "name": "Genoir Simoni" }, { "affs": [ 13 ], "name": "Guido de Paula Colares Neto" }, { "affs": [ 14 ], "name": "Rodrigo Ambrosio Fock" }, { "affs": [ 15 ], "name": "Louise Cominato" }, { "affs": [ 16 ], "name": "Paulo Ferrez Collett-Solberg" }, { "affs": [ 17 ], "name": "Kênia Maria de Souza Rio" }, { "affs": [ 18 ], "name": "Juliana Lopes Yamin" }, { "affs": [ 19, 20 ], "name": "Juan Clinton Llerena Jr" } ], "bibtex": "https://research.draconitic.com/paper/a2h135006v348.bib", "cited_by": 0, "doi": "10.1186/s13023-026-04519-8", "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13732916/", "id": "a2h135006v348", "issns": [ "1750-1172" ], "landing_url": "https://doi.org/10.1186/s13023-026-04519-8", "language": "en", "licence": "CC-BY-4.0", "licence_label": "CC BY 4.0", "licence_source": "article", "licence_url": "https://creativecommons.org/licenses/by/4.0/", "metadata_licence": null, "native_subjects": [ [ "heading", "Review" ], [ "openalex", "1311|Connective tissue disorders research" ] ], "openalex": "W7197029766", "pdf_url": null, "pmcid": "PMC13732916", "pmid": "42983735", "published": "2026-08-06", "publisher": "BMC", "ris": "https://research.draconitic.com/paper/a2h135006v348.ris", "sources": [ { "first_seen": "2026-11-08T12:22:48Z", "native_id": "PMC13732916", "source": "pmc", "url": "https://doi.org/10.1186/s13023-026-04519-8" } ], "subjects": [ { "field": "biology", "origin": "openalex:1311|Connective tissue disorders research", "subfield": "genetics-genomics" } ], "title": "Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia", "title_text": "Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia", "type": "peer-reviewed", "updated_at": "2026-11-08T12:22:48Z", "url": "https://research.draconitic.com/paper/a2h135006v348", "venue": "Orphanet Journal of Rare Diseases", "versions": [] }