0604507 - ÚMG 2025 RIV US eng J - Journal Article
Rico-Llanos, G. - Špoutil, František - Bláhová, E. - Koudelka, A. - Procházková, Michaela - Czyrek, A. - Fafílek, Bohumil - Procházka, Jan - Lopez, M. G. - Křivánek, J. - Sedláček, Radislav - Krakow, D. - Nonaka, Y. - Nakamura, Y. - Krejčí, Pavel
Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.
Journal of Bone and Mineral Research. Roč. 39, č. 12 (2024), s. 1783-1792. ISSN 0884-0431. E-ISSN 1523-4681
R&D Projects: GA MŠMT LX22NPO5102; GA MZd NU23-10-00550; GA MŠMT(CZ) LM2018126; GA MŠMT LM2023036; GA MŠMT(CZ) LM2023050; GA MŠMT EF18_046/0015861
Institutional support: RVO:68378050 ; RVO:67985904
Keywords : growth * receptor * ossification * activation * closure * rescues * achondroplasia * Fgfr3 * fibroblast growth factor * treatment * postnatal * infigratinib
OECD category: Developmental biology
Impact factor: 5.1, year: 2023 ; AIS: 1.85, rok: 2023
Method of publishing: Open access
Result website:
https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=falseDOI: https://doi.org/10.1093/jbmr/zjae173

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.
Permanent Link: https://hdl.handle.net/11104/0361937