Endocrine Abstracts

Over the past 10 years, tremendous advances have been made in understanding the role that genetic factors play in the regulation of bone metabolism and bone disease. Most bone diseases have a strong genetic component but for many of these the genetic architecture is incompletely understood. However it is clear that in some diseases, there is Mendelian inheritance of the phenotype due to alleles that have a large effect size, whereas in other diseases, the inheritance is polyge...

Background: Primary hyperparathyroidism (PHPT) is a common condition, which in some patients can lead to complications such as osteoporosis and renal stones. This survey investigated diagnosis and treatment strategies for PHPT across Europe.Methods: The survey was conducted in five European countries (France, Germany, UK, Italy and Spain). 286 of the 421 interviewed physicians were endocrinologists; the remainder were rheumatologists (46), internists (50...

Zoledronate in the Prevention of Paget’s disease (ZiPP) trial (ClinicalTrials.gov ID:NCT03859895) is a multi-centre, double-blind, placebo-controlled, randomised trial of Zoledronic acid (ZA) in sequestosome1 (SQSTM1) mutation carriers. SQSTM1 mutation has high penetrance and is associated with the early onset of Paget’s disease of bone. Participants with the SQSTM1 genotype received either a single dose of IV 5mg ZA (Aclasta, Novartis); intervention group n...

Introduction: Burosumab, a fully human monoclonal antibody to fibroblast growth factor 23 (FGF23), is the only approved treatment for XLH, a rare genetic disorder characterized by renal phosphate wasting and substantial cumulative musculoskeletal morbidity. BUR02 (NCT03920072) is a European phase 3b open-label study monitoring the long-term safety and efficacy of burosumab in adults with XLH from sites who participated in the CL303/CL304 studies (NCT02526160/02537431).<p c...

UX023-CL303 is an ongoing, Phase 3, double-blind, multicenter study examining the efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, in adults with XLH. Eligible subjects had serum phosphorus levels <0.81 mmol/l and skeletal pain (BPI – Worst Pain ≥4). Subjects (N=134) were randomized 1:1 to receive burosumab 1 mg/kg or placebo subcutaneously every 4 weeks. After 24 weeks, subjects in the placebo group crossed-over to rec...