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

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Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of ...

Přehled o publikaci

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

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

https://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

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.

Files attached

https://is.muni.cz/publication/2470319/Achondroplasia_aligning_mouse_model_with_human_clinical_studies_shows_crucial_importance_of_immediate_postnatal_start_of_the_therapy.pdf

Cite

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. Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. Journal of bone and mineral research. Hoboken: Wiley, 2024, vol. 39, No 12, p. 1783-1792. ISSN 0884-0431. Available from: https://doi.org/10.1093/jbmr/zjae173.

@article{66891,
   author = {Rico Llanos, Gustavo and Spoutil, Frantisek and Blahová, Eva and Koudelka, Adolf and Prochazkova, Michaela and Czyrek, Aleksandra Anna and Fafílek, Bohumil and Prochazka, Jan and González López, Marcos and Křivánek, Jan and Sedlacek, Radislav and Krakow, Deborah and Nonaka, Yosuke and Nakamura, Yoshikazu and Krejčí, Pavel},
   article_location = {Hoboken},
   article_number = {12},
   doi = {https://doi.org/10.1093/jbmr/zjae173},
   keywords = {achondroplasia; Fgfr3; fibroblast growth factor; treatment; postnatal; infigratinib},
   language = {eng},
   issn = {0884-0431},
   journal = {Journal of bone and mineral research},
   title = {Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy},
   url = {https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=true},
   volume = {39},
   year = {2024}
}

TY  - JOUR
ID  - 66891
AU  - Rico Llanos, Gustavo - Spoutil, Frantisek - Blahová, Eva - Koudelka, Adolf - Prochazkova, Michaela - Czyrek, Aleksandra Anna - Fafílek, Bohumil - Prochazka, Jan - González López, Marcos - Křivánek, Jan - Sedlacek, Radislav - Krakow, Deborah - Nonaka, Yosuke - Nakamura, Yoshikazu - Krejčí, Pavel
PY  - 2024
TI  - Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy
JF  - Journal of bone and mineral research
VL  - 39
IS  - 12
SP  - 1783-1792
EP  - 1783-1792
PB  - Wiley
SN  - 0884-0431
KW  - achondroplasia
KW  - Fgfr3
KW  - fibroblast growth factor
KW  - treatment
KW  - postnatal
KW  - infigratinib
UR  - https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=true
N2  - 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.
ER  -

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. Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. \textit{Journal of bone and mineral research}. Hoboken: Wiley, 2024, vol.~39, No~12, p.~1783-1792. ISSN~0884-0431. Available from: https://doi.org/10.1093/jbmr/zjae173.