Expanding horizons of achondroplasia treatment: current options
and future developments

J 2022

Expanding horizons of achondroplasia treatment: current options and future developments

FAFÍLEK, Bohumil, Michaela BOSÁKOVÁ and Pavel KREJČÍ

Basic information

Original name

Expanding horizons of achondroplasia treatment: current options and future developments

Authors

FAFÍLEK, Bohumil (203 Czech Republic, belonging to the institution), Michaela BOSÁKOVÁ (203 Czech Republic, belonging to the institution) and Pavel KREJČÍ (203 Czech Republic, belonging to the institution)

Edition

Osteoarthritis and Cartilage, Oxford, Elsevier, 2022, 1063-4584

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30211 Orthopaedics

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 7.000

RIV identification code

RIV/00216224:14110/22:00129015

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.joca.2021.11.017

UT WoS

000820228300006

Keywords in English

achondroplasia treatment

Abstract

V originále

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. (C) 2021 Osteoarthritis Research Society International.

Links

GA19-20123S, research and development project

Name: Regulace časného vývoje savčí končetiny pomocí nestabilních morfogenů z rodiny FGF (Acronym: Regulace časného vývoje savčí končetiny)

Investor: Czech Science Foundation

GF21-26400K, research and development project

Name: Vztah struktury a funkce v signálováni fibroblastových růstových faktorů

Investor: Czech Science Foundation, Lead Agency

NU21-06-00512, research and development project

Name: Využití fosfodiesteráz k terapeutické manipulaci buněk chrupavky a kosti

Investor: Ministry of Health of the CR, Subprogram 1 - standard

Citovat

FAFÍLEK, Bohumil, Michaela BOSÁKOVÁ and Pavel KREJČÍ. Expanding horizons of achondroplasia treatment: current options and future developments. Osteoarthritis and Cartilage. Oxford: Elsevier, 2022, vol. 30, No 4, p. 535-544. ISSN 1063-4584. Available from: https://dx.doi.org/10.1016/j.joca.2021.11.017.

@article{1818487,
   author = {Fafílek, Bohumil and Bosáková, Michaela and Krejčí, Pavel},
   article_location = {Oxford},
   article_number = {4},
   doi = {http://dx.doi.org/10.1016/j.joca.2021.11.017},
   keywords = {achondroplasia treatment},
   language = {eng},
   issn = {1063-4584},
   journal = {Osteoarthritis and Cartilage},
   title = {Expanding horizons of achondroplasia treatment: current options and future developments},
   url = {https://www.sciencedirect.com/science/article/pii/S1063458421009808},
   volume = {30},
   year = {2022}
}

TY  - JOUR
ID  - 1818487
AU  - Fafílek, Bohumil - Bosáková, Michaela - Krejčí, Pavel
PY  - 2022
TI  - Expanding horizons of achondroplasia treatment: current options and future developments
JF  - Osteoarthritis and Cartilage
VL  - 30
IS  - 4
SP  - 535-544
EP  - 535-544
PB  - Elsevier
SN  - 10634584
KW  - achondroplasia treatment
UR  - https://www.sciencedirect.com/science/article/pii/S1063458421009808
N2  - 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. (C) 2021 Osteoarthritis Research Society International.
ER  -

FAFÍLEK, Bohumil, Michaela BOSÁKOVÁ and Pavel KREJČÍ. Expanding horizons of achondroplasia treatment: current options and future developments. \textit{Osteoarthritis and Cartilage}. Oxford: Elsevier, 2022, vol.~30, No~4, p.~535-544. ISSN~1063-4584. Available from: https://dx.doi.org/10.1016/j.joca.2021.11.017.

Detailed Information on Publication Record