Description
There were three papers selected from our November literature search. Trautwein et al. retrospectively reviewed magnetic resonance imaging scans from 37 children with achondroplasia and 37 children without achondroplasia (ACH), to expand upon the achondroplasia foramen magnum score system (AFMS). 12 parameters were measured and AFMS scores established. Significant differences were found between the achondroplastic and reference groups in 10 of the parameters measured, and AFMS was retrospectively determined in 24 of the 37 children with ACH.
Our second paper by Rico-Llanos et al. compared the effects of infigratinib given immediately after birth with therapy started later. Mouse pup litters were randomly assigned into experimental and control groups and given subcutaneous injections of infigratinib. Bone staining, micro-computed tomography imaging, and morphometric analyses were performed to obtain skull, tibia, and femur measurements. Infigratinib improved defective axial and appendicular growth, and early infigratinib treatment restored defective head skeletogenesis in mice with ACH.
Our final selection by Savarirayan et al. evaluated safety and efficacy of oral infigratinib in children between 3 and 11 years. 72 children with ACH were enrolled into five cohorts. Participants were treated with infigratinib for 6 months, followed by 12 months of extended treatment in which cohorts 1 and 2 escalated to the next ascending dose levels at months 6 and 12. All children had at least one adverse event, most of which were mild or moderate; none resulted in discontinuation. In cohort 5, an increased annualised height velocity (AHV) was observed, which persisted throughout the study. Oral infigratinib treatment did not result in any apparent major safety concerns and increased the AHV in children with ACH.
