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; Frantisek SPOUTIL; Eva BLAHOVÁ; Adolf KOUDELKA; Michaela PROCHAZKOVA; Aleksandra Anna CZYREK; Bohumil FAFÍLEK; Jan PROCHAZKA; Marcos GONZÁLEZ LÓPEZ; Jan KŘIVÁNEK; Radislav SEDLACEK; Deborah KRAKOW; Yosuke NONAKA; Yoshikazu NAKAMURA and Pavel KREJČÍ
Edition
Journal of bone and mineral research, Hoboken, Wiley, 2024, 0884-0431
Other information
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
RIV identification code
RIV/00216224:14110/24:00138597
Organization
Lékařská fakulta – Repository – Repository
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.
In the original language
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: 13/12/2025 15:44