P156: Beyond height and growth: Impact of achondroplasia therapy on a cohort of Brazilian patients
Achondroplasia is the most common form of skeletal dysplasia. Individuals with achondroplasia may suffer from a range of serious and debilitating complications over the course of their lifetime: sleep disordered breathing, upper airway obstruction and ear, orthopedic problems, foramen magnum stenosis, among others. Recently, several drugs that modulate abnormally activated FGFR3 signaling have recently emerged, being vosoritide, a recombinant C-type natriuretic peptide (CNP) analog, the first specific drug approved for children with achondroplasia.
Authors
- Charles Marques Lourenço (ORCID: https://orcid.org/0000-0002-2296-6098)
- Ana Luísa Alcaide Thomaz (ORCID: https://orcid.org/0009-0008-4344-5655)
- Lucas Carvalho Carrijo Madurro (ORCID: https://orcid.org/0009-0000-0499-9171)
- Solon de Almeida Neto
- Milena Theodoro
Institutions
- Faculdade de Medicina de São José do Rio Preto (BR)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102121
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00