IMPE Abstracts

Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone brittleness. The height-for-age Z-score (HAZ)-adjusted BMD-for-age Z-score (BMDHAZ) to reduce the confounding factor of short stature is calculated in children and adolescents with OI. However, even with BMDHAZ, severity evaluation in children and adolescents ...

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition of phosphate wasting leading to rickets and short stature in childhood, additional adult manifestations, and lifelong stiffness, chronic pain, muscle weakness, and fatigue.Methods: UX023-CL401 (NCT03651505) is a prospective, multinational, multicenter, longitudinal, disease monitoring program (DMP) that aims to characterize the clinical, radiogr...

Hypophosphatasia (HPP) is a congenital skeletal disorder characterized by failure of bone calcification, which is caused by deficiency of the tissue non-specific alkaline phosphatase (TNSALP) enzyme. There is a remarkable range of severity in the phenotype, and some pediatric HPP patients show failure to thrive depending on their severity. In this study, we aim to elucidate the association between serum ALP activity and growth in HPP children. Twenty-six HPP patients (16 males...

Introduction: This study aimed to evaluate and compare the trabecular bone scores (TBSs) of 35 patients (11 children and 24 adults) with X-linked hypophosphatemic rickets (XLH) confirmed by PHEX mutations and non-XLH subjects from a tertiary center.Materials and Methods: The areal bone mineral density at the lumbar spine (LS-aBMD) and LS-aBMD Z score were analyzed by dual-energy X-ray absorptiometry (DXA). The bone miner...

Setrusumab is a fully human anti-sclerostin monoclonal antibody in development for the treatment of osteogenesis imperfecta (OI). In a Phase 2b study in adults with OI, setrusumab demonstrated robust increases in bone formation, density and strength across OI Types I, III, and IV (NCT03118570). The Orbit study is an operationally seamless Phase 2/3 clinical trial assessing the efficacy and safety of setrusumab in pediatric and young adult participants with OI (NCT0512...

We present a 9 years old girl, L.B, referred to Pediatric Endocrinology due to progressive deformity in lower limbs since 7 years of age. This is a previously healthy child, no neonatal complications and adequate neuromotor development. At 2 years old, a thin hair appearance was noticed. She had a poor daily calcium intajke of 400mg/day and adequate sun exposure. At physical examination, it was noted severe short stature (-3.8 SDS), genus valgus, widening of wrists and ankles,...

Objective: Compare the efficacy and safety of daily vs fortnightly oral vitamin D3 in treating symptomatic vitamin D deficiency in children aged 1-10 years.Methods: 80 children with symptomatic vitamin D deficiency and serum 25(OH)D ≤20 ng/ml were randomized into group A and group B to receive oral vitamin D3 daily (4000 IU/day) for 12 weeks or 60000 IU fortnightly for total six doses over three months respectively. B...

To describe the BMD at FH of well-controlled PKU patients we retrieved retrospectively, data from 18 compliant moderate/severe patients (7 female), under conventional treatment since diagnosis. Eleven had received sapropterin dihydrochloride (BH4) since puberty, increasing their phenylalanine intake. FH, mid-parental height (MPH), genotype, fractures, and tolerance to phenylalanine intake (tol) before and after BH4 were considered. Total Body (TB) and Lum...

Introduction: Gonadotropin-releasing hormone agonists (GnRHa) have been a gold standard treatment for central precocious puberty (CPP) for last 30 years. However, it is still controversial over the adverse reactions that may occur during the treatment. Especially, GnRHa treatment can reduce bone mineral density (BMD) by increasing bone turnover and suppressing of gonadal hormone. Therefore, for evaulating the effect of GnRHa on BMD, we measured serial BMD befo...

Background: Aggrecan (encoded by ACAN gene) is a significant proteoglycan that is an important component of the cartilage extracellular matrix, and plays a vital role in cartilage and bone morphogenesis. Pathogenic ACAN gene loss‐of‐function variants have been associated with various short stature and bone dysplasia.Objective: We observed the clinical and genetic characteristics of fourteen patients with ACAN v...