Expanding horizons of achondroplasia treatment: current options and future developments
Jazyk angličtina Země Velká Británie, Anglie Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
PubMed
34864168
DOI
10.1016/j.joca.2021.11.017
PII: S1063-4584(21)00980-8
Knihovny.cz E-zdroje
- Klíčová slova
- Achondroplasia, Aptamer, FGFR3, Fibroblast growth factor, Treatment, Vosoritide,
- MeSH
- achondroplazie * farmakoterapie terapie MeSH
- lidé MeSH
- mutace MeSH
- receptor fibroblastových růstových faktorů, typ 3 genetika metabolismus MeSH
- signální transdukce MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Názvy látek
- receptor fibroblastových růstových faktorů, typ 3 MeSH
Activating mutations in the FGFR3 receptor tyrosine kinase lead to most prevalent form of genetic dwarfism in humans, the achondroplasia. Many features of the complex function of FGFR3 in growing skeleton were characterized, which facilitated identification of therapy targets, and drove progress toward treatment. In August 2021, the vosoritide was approved for treatment of achondroplasia, which is based on a stable variant of the C-natriuretic peptide. Other drugs may soon follow, as several conceptually different inhibitors of FGFR3 signaling progress through clinical trials. Here, we review the current achondroplasia therapeutics, describe their mechanisms, and illuminate motivations leading to their development. We also discuss perspectives of curing achondroplasia, and options for repurposing achondroplasia drugs for dwarfing conditions unrelated to FGFR3.
Citace poskytuje Crossref.org
A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic
