J 2024

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy

RICO LLANOS, Gustavo, Frantisek SPOUTIL, Eva BLAHOVÁ, Adolf KOUDELKA, Michaela PROCHAZKOVA et. al.

Basic information

Original name

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy

Authors

RICO LLANOS, Gustavo (724 Spain, belonging to the institution), Frantisek SPOUTIL (203 Czech Republic), Eva BLAHOVÁ (203 Czech Republic, belonging to the institution), Adolf KOUDELKA (203 Czech Republic, belonging to the institution), Michaela PROCHAZKOVA (203 Czech Republic), Aleksandra Anna CZYREK (616 Poland, belonging to the institution), Bohumil FAFÍLEK (203 Czech Republic, belonging to the institution), Jan PROCHAZKA (203 Czech Republic), Marcos GONZÁLEZ LÓPEZ (724 Spain, belonging to the institution), Jan KŘIVÁNEK (203 Czech Republic, belonging to the institution), Radislav SEDLACEK (203 Czech Republic), Deborah KRAKOW, Yosuke NONAKA, Yoshikazu NAKAMURA and Pavel KREJČÍ (203 Czech Republic, belonging to the institution)

Edition

Journal of bone and mineral research, Hoboken, Wiley, 2024, 0884-0431

Other information

Language

English

Type of outcome

Article in a journal

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

References:

URL

RIV identification code

RIV/00216224:14110/24:00138597

Organization

Lékařská fakulta – Repository – Repository

DOI

http://dx.doi.org/10.1093/jbmr/zjae173

UT WoS

001359521900001

EID Scopus

2-s2.0-85212329528

Keywords in English

achondroplasia; Fgfr3; fibroblast growth factor; treatment; postnatal; infigratinib

Links

GF21-26400K, research and development project. LX22NPO5102, research and development project. MUNI/G/1771/2020, interní kód Repo. NU23-10-00550, research and development project. CCP III, large research infrastructures. Czech-BioImaging III, large research infrastructures.
Changed: 3/6/2025 00:50, RNDr. Daniel Jakubík

Abstract

V originále

The article provides clear evidence that achondroplasia should be treated immediately after birth, not only to increase height (appendicular growth), but more importantly to prevent defective cranial skeletogenesis and associated severe neurological complications. Although later treatment promotes growth of the long bones (achondroplasia patients grow taller), the defective head skeleton that forms before and/or early after birth cannot be restored if therapy is not started immediately after birth. We also describe the limitations of postnatal treatment and make a strong case for the development of prenatal therapy for achondroplasia, which appears necessary for a comprehensive treatment of this condition.
Displayed: 15/6/2025 10:32