ESPE Abstracts

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...