A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic

0558691 - ÚŽFG 2023 RIV GB eng J - Journal Article
Pešl, M. - Verescakova, H. - Skutková, L. - Střenková, J. - Krejčí, Pavel
A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.
Orphanet Journal of Rare Diseases. Roč. 17, č. 1 (2022), č. článku 229. E-ISSN 1750-1172
Institutional support: RVO:67985904
Keywords : skeletal dysplasia * achondroplasia * FGFR3
OECD category: Cell biology
Impact factor: 3.7, year: 2022
Method of publishing: Open access
https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02374-x

Background: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. This progress creates an opportunity for children with ACH, who may gain early access to the treatment by entering clinical trials before the closure of their epiphyseal growth plates and cessation of growth. Pathophysiology associated with the ACH, however, demands a long observational period before admission to the interventional trial. Public patient registries can facilitate the process by identification of patients suitable for treatment and collecting the data necessary for the trial entry.
Permanent Link: https://hdl.handle.net/11104/0332589