Bone Abstracts

STRUCTURE was a phase 3, open-label study evaluating the effect of romosozumab or TPTD for 12 months in women with postmenopausal osteoporosis transitioning from bisphosphonate therapy (NCT01796301). This study enrolled women with postmenopausal osteoporosis who had taken an oral bisphosphonate for ≥3 years prior to screening and alendronate in the year prior to screening; had a BMD T-score ≤−2.5 at the total hip (TH), lumbar spine (LS), or femoral neck (FN);...

Objectives: Osteoporosis is a frequent cause of morbidity in boys with glucocorticoid (GC)-treated Duchenne Muscular Dystrophy (DMD). We sought to determine the frequency and characteristics of the two most debilitating types of fractures, vertebral and long bone (VF and LBF), in pediatric DMD.Methods: This was a prospective, bi-centre, single-visit observational study in boys 4 to 17 years of age with genetically-confirmed DMD. The bone health assessmen...

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...

Aging is a complex process that results in the decline of physiologic functions due to accumulation of damage in cells and tissues. Mesenchymal stem cells (MSCs) counteract this decline but their regeneration capacity decreases with age. In particular osteogenic differentiation potential of MSCs has been shown to decrease with age thereby contributing to slowed down bone formation and osteoporosis. While much is known about cellular aging of MSCs, little is known about factors...

Introduction: Children with chronic kidney disease (CKD) who suffer from growth retardation have usually normal circulating GH but low IGF1, suggesting GH resistance. We have previously shown in growth retarded CKD rats an increase in suppressor of cytokine signaling 2 (SOCS2) levels, a key negative regulator of GH signaling. SOCS2 spontaneously mutated (HG) mice show an exaggerated body growth and increased bone mass. We investigated growth and GH receptor (GHR) signaling in ...

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...

Aim: The aim of this study is evaluating of body composition and frequency of sarcopenia in women depending on age.Materials and methods: We have examined 8637 women aged 20–89 years (mean age – 56.7±0.14 years; mean height – 162.5±0.07 cm; mean weight – 73.5±0.16 kg). The patients were divided into two groups depending on age: 20–24 (n=143), 25–29 (n=209), 30–34 (n=271), 35&#15...

Introduction: Bone health in patients with sickle cell disease and thalassemia is impaired. These patients feature altered parameters of bone metabolism and bone mineral density.Aim and design: To investigate bone health in patients with hemolytic anemia we conducted a cross-sectional analysis in our Hematology Outpatient Clinic at the Children’s Hospital Essen. The largest subgroups within our cohort are patients with homozygous sickle cell (HBSS) ...

In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature. In our Phase 2 study, 52 XLH children (ages 5-12 years, ≥Tanner 2) were randomized to receive KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum phosphate (Pi) was measured biweekly. KRN23 dose was titrated (maximum 2 mg/kg) targeting age-appropriate serum Pi concentrations.The first 36 subjects had a mean 6.6 years of standard-of-care treatment before wash...

Objectives: Spinal muscular atrophy (SMA) results in varying degrees of hypotonic immobility. Prior reports demonstrate an increased risk of fracture and a trend toward low bone mineral density (BMD) in this population. We aim to further characterize bone health in paediatric SMA patients by reporting the prevalence of fractures and low BMD (z-score≤−2.0) by SMA subtype, BMD of the lateral distal femur (LDF; an important fracture location in non-ambulatory...