POSA272 Using Real World Evidence to Characterise Utility in Patients with a Rare Disease: Analysis of Pompe Registry Data

Abstract

Obtaining utility values for disease modelling in rare conditions is challenging. Late-onset Pompe disease (LOPD), an inherited metabolic disorder, is characterised by progressive muscle weakness leading to increasing disability and patient dependence on wheelchair and ventilator use. There is scarce evidence on the utility associated with disability, however, SF-36 is frequently measured in clinical practice. This research aims to investigate the impact of need for wheelchair and ventilator use on utility in patients with LOPD using SF-36 data from the Pompe Registry (NTC00231400/Sanofi Genzyme).