Achondroplasia is the most common short-stature skeletal dysplasia, with an estimated birth incidence of 1 in 10000 to 1 in 300001.
Achondroplasia is an autosomal dominant disorder, caused by mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The gain of function mutation resulting in ligand independent activation of FGFR3, affects the cartilaginous growth plate in the growing skeleton. Approximately 75% to 80% of patients with achondroplasia are born to average-stature parents, in that affected individual 2 .
Achondroplasia is characterized by disproportionate short stature with skeletal dysplasia, and has an increased risk for death in infancy. Individuals living with ACH may experience severe complications and comorbidities 3.
Individuals living with ACH suffer from a low quality of life. Patients may even need special assistance when grown up and it is difficult to integrate themselves into the society, which may bring great illness burden to themselves, as well as their families and society 3.
To date, no drugs are licensed for treatment of achondroplasia. C-type natriuretic peptide（CNP）is considered as a promising therapeutic approach4. However, its short half-life (2-3 minutes)5 limits its clinical application.
1. Hoover-Fong J, et al, Pediatrics. 2020;145(6):e20201010
2. Pauli RM. Orphanet J Rare Dis. 2019;14(1):1-49.
3. Ireland PJ, et al. Appl Clin Genet. 2014;7:117-125.
4. Högler W, et al. Wien Med Wochenschr. 2020;170(5-6):104-111.
5. Breinholt VM, et al. J Pharmacol Exp Ther. 2019;370(3):459-471.