All Articles tagged Pompe disease

• Genetic Disorders
  January 02, 2025 EDT
  Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands
  Holly LumgairLisa BashorumAlasdair MacCullochElizabeth MinasGeorge TimminsDrago BratkovicRichard PerryMedi StoneVasileios BlazosElisabetta ContiRaymond Saich

  This study investigates how self-reported status of late-onset Pompe disease relates to quality of life and characterizes participant experiences, including mobility or ventilation aids, caregivers, symptomology, and daily life impacts.

  Abstract
• Genetic Disorders
  September 18, 2024 EDT
  Health-Related Quality-of-Life Utility Values in Adults With Late-Onset Pompe Disease: Analyses of EQ-5D Data From the PROPEL Clinical Trial
  Alison GriffithsSimon ShohetNeil JohnsonAlasdair MacCulloch

  This analysis of EQ-5D health-related quality-of-life utility data from the PROPEL clinical trial compared cipaglucosidase alfa plus miglustat vs alglucosidase alfa plus placebo in late-onset Pompe disease.

  Abstract
• Genetic Disorders
  March 03, 2023 EDT
  Quality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom
  Lena HubigAnna-Katrine SussexAlasdair MacCullochDerralynn HughesRyan GrahamLiz MorrisSyed RazaAndrew J. LloydAmanda SowinskiKaty Gallop

  This study aimed to develop health state vignettes and estimate health state utility values for late-onset Pompe disease in the United Kingdom.

  Abstract