Endocrine Abstracts

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The study of rare bone diseases has fundamentally informed our understanding of bone biology and led to the development of novel therapies in common diseases such as osteoporosis. The 100,000 Genomes Project is a landmark enterprise of whole-genome sequencing and included rare musculoskeletal disorders. This presentation will describe how studies of Van Buchem disease, hypophosphataemia and Osteogenesis Imperfecta have informed bone biology as well as the current research oppo...

Case history: A 39 year old lady was being investigated and managed for premature ovarian insufficiency (onset aged 29y) associated with an unusual constellation of symptoms. Following normal childhood and pubertal development, she subsequently developed fatigue, multiple gastrointestinal symptoms and was underweight with evidence of weight loss, and a most recent BMI of 17 kg/m2. She had previously been reviewed due to marked absence of subcutaneous fat in the lowe...

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...