Bone Abstracts

Achondroplasia is the most common form of short-limbed dwarfism with a frequency of 1 in 10,000 to 30,000 births. Although it can be inherited in a autosomal dominant manner, 80% of the cases are sporadic. Achondroplasia is classified as one of the FGFR3 chondrodysplasias and more than 97% occur from an activating mutation at residue 380 (p.R380G) of the FGFR3 gene. Current treatment of achondroplasia is mainly directed at prevention and treatment of its complications (obstruc...

Backgrounds: Osteogenesis imperfecta (OI) is an inherited bone disease caused by qualitative or quantitative defects in type I collagen, and is characterized by bone fragility and ligamentous laxity. Spine disorder is an important symptom in children with OI, and respiratory difficulties secondary to spinal disorder were identified as a main cause of death in these patients. Reduced fracture rates and prevention of long-bone deformities have been reported in children with OI w...

Objectives: Osteogenesis imperfecta (OI) is a relatively common skeletal dysplasia characterized by bone fragility, mainly resulting from mutations in the COL1A1 and COL1A2 genes. Phenotype–genotype correlation is not fully uncovered in OI. Additionally, more than ten genes have been found to be responsible for OI. In the current study, we determine mutations in patients with OI using a targeted exome sequencing and examine a phenotype–genotype correlation.<p cla...

Objective: To investigate the effect of growth hormone (GH) treatment on glucose metabolism in achondroplasia (ACH) patients.Patients and methods: Twenty-five GH-treated (0.35 mg/kg/week) ACH patients (10 males and 15 females) were included in this study. Oral glucose tolerance test (OGTT) was performed at three time points; ‘pre-treatment’ (age: 4.0±1.9 years), ‘post short-term treatment’ (age: 6.5±3.0 years), and ‘pos...

Objective: We compared the efficacy and safety of burosumab, a monoclonal antibody against FGF23, to conventional therapy [oral phosphate and active vitamin D (Pi/D)] in children with X-linked hypophosphatemia (XLH).Methods: In this Phase 3 trial (NCT02915705), 61 children with XLH (1-12 years-old) were randomized 1:1 after a 7-day Pi/D washout to receive burosumab starting at 0.8 mg/kg SC Q2W or reinitiate Pi/D optimally titrated by investigators. Eligi...