Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy
| Authors | |
|---|---|
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Journal of bone and mineral research |
| MU Faculty or unit | |
| Citation | |
| web | https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=true |
| Doi | http://dx.doi.org/10.1093/jbmr/zjae173 |
| Keywords | achondroplasia; Fgfr3; fibroblast growth factor; treatment; postnatal; infigratinib |
| Attached files | |
| Description | 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. |
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