ESPE Abstracts

Achondroplasia (ACH) is the most common human skeletal dysplasia caused by gain -of-function mutation in the fibroblast growth factor receptor gene (FGFR) 3-encoding protein. Vosoritide, an analog of C-type natriuretic peptide (CNP), is currently the sole medication approved for ACH treatment. Vosoritide can only be administered by daily injection, leaving room for improvement. Infigratinib, a pan-FGFR1/2/3 inhibitor, offers a potential oral treatment alternative and is curren...

Introduction: Glucocorticoid-induced osteoporosis is the most frequent cause of secondary osteoporosis. Glucocorticoids are known to diminish β-catenin activity via Wnt pathway signaling, leading to osteoporosis and osteonecrosis. Bone homeostasis depends on the regulation of β-catenin in osteoblasts. Disruption of bone homeostasis, oxidative stress and mitochondrial dysfunction are major causes of glucocorticoid-induced osteoporosis; therefore, alle...

Acromicric dysplasia AD）is a relatively rare congenital disease characterized by server short stature、short extremities、and progressive joint limitation. The skeletal dysplasia significantly affects the physical and mental health of children and adolescents. FBN1 heterozygous point mutations in TB5 domain have been proposed as the predominant cause of AD. While upregulation of TGF-β signaling has been proposed as the underlying molecular mech...

X-linked hypophosphatemia (XLH) is characterized by excess FGF 23, hypophosphatemia, skeletal deformities, and growth impairment. Due to the lack of large-scale and long-term observational studies, not enough evidence has been accumulated to gain consensus on optimal care. A longitudinal, observational cohort study (SUNFLOWER) was initiated in Japan and South Korea to clarify the course of XLH; delineate its physical, mental, and financial burdens; and collect information on t...

Background: The primary source of dietary calcium is often cow’s milk. Previous studies show a reduced bone mineral density (BMD), measured by dual energy x-ray absorptiometry, in children with cow’s milk allergy (CMA). No studies using peripheral quantitative computed tomography (pQCT) to determine bone health have been carried out in subjects with CMA. Long-term effects of a milk elimination diet during infancy on bone health are unknown.<p c...

Background: CrescNet is a European pseudonymous paediatric registry of longitudinal measurements used to screen for growth disorders including achondroplasia (ACH). ACH is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene, resulting in severe disproportionate short stature and medical complications related to impaired endochondral bone growth. Vosoritide (C-type natriuretic peptide analogue) i...