Endocrine Abstracts

Background: Glucocorticoid treatment is commonly used for Duchenne Muscular Dystrophy (DMD) in young people, but is associated with a high incidence of fragility fractures. This systematic review aims to assess the current evidence for pharmacological and non-pharmacological treatment for osteoporosis in children and adults with DMD, with the goal of guiding future management strategies.Methods: Three online databases (E...

Background: Osteoporosis commonly occurs as a result of long-term glucocorticoid use and muscle weakness in individuals with Duchenne muscular dystrophy (DMD), rendering them highly susceptible to fragility fractures of vertebrae and long bones. Existing clinical guidelines for the management of osteoporosis in DMD primarily focus on paediatric management. In particular, management during transition from paediatric to adult care is not clarified in current int...

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare, genetic and devastating disease characterized by progressive heterotopic ossifications (HO) in muscles, tendons, ligaments and fascia. The formation of HO leads to severe contractures and early death. There are no approved medications yet. The STOPFOP team identified AZD0530 (saracatinib) as a potent, low nanomolar inhibitor of the mutant ALK2 kinase which is the unique genetic driver of this rare bone disease....

Background: FOP is an ultra-rare genetic disorder characterised by episodic progressive heterotopic ossification (HO) and flare-ups, causing cumulative disability and early death. FOP is diagnosed and managed by multiple specialists, including endocrinologists. There are no established disease-modifying therapies to prevent HO in FOP. Treatment guidelines for symptomatic relief of FOP have recently been published by the International Clinical Council on FOP (ICC).1<...

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...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by cumulative heterotopic ossification (HO), often preceded by episodic flare-ups, leading to physical disability and early death. Initial misdiagnosis can occur in ~90% of individuals leading to unnecessary, often harmful interventions. FOP is diagnosed and managed by multiple specialists, including endocrinologists.Objective: A prospective, 36-month, global natural...

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...