Pediatria pre prax 5/2022
Achondroplasia – orphan disease, orphan treatment
Achondroplasia is the most common form of dwarfism in humans. Knowing the etiopathogenesis and genetic cause of achondroplasia opened the way to the discovery and development of effective treatment. The first drug available is vosoritide – a modified C-type natriuretic peptide (CNP) that antagonizes „downstream“ FGFR3 signaling. Other candidates are: soluble FGFR3 decoy (TA-46) and tyrosine kinase inhibitor FGFR1-3 – infigratinib. Advances in the research of innovative pharmacotherapy allow us to open the so far unspoken question about the „cure“ of achondroplasia.
Keywords: achondroplasia, treatment
