Publications by authors named "A C Macculloch"
Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population. This study investigated how individuals' self-reported LOPD status (improving, stable, declining) relates to their QoL.
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- Pompe disease is a rare condition causing glycogen buildup, leading to severe muscle weakness and early mortality if untreated, but enzyme replacement therapy shows promise in improving health for those with late-onset forms.
- The PROPEL trial tested two different treatments (cipaglucosidase alfa with miglustat vs. standard therapy) in 123 adults with late-onset Pompe disease, using various health metrics, including quality of life assessments over a year.
- Analysis of the trial's health-related quality of life data indicated that patients walking more than 75 meters had utility values between 0.55 and 0.67, while those needing wheelchairs had lower predicted values, signifying a potential correlation between walking ability and overall health
Article Synopsis
- Late-onset Pompe disease leads to worsening muscle and respiratory function, traditionally treated with enzyme replacement therapy (ERT) using alglucosidase alfa, but newer options like avalglucosidase alfa and cipaglucosidase alfa with miglustat are now available.
- Researchers conducted a systematic review and multi-level meta-regression to compare the effectiveness of these treatments on 6-minute walk distance (6MWD) and forced vital capacity (FVC).
- Results indicated that cipaglucoside alfa with miglustat improved both 6MWD and FVC relative to alglucosidase alfa when assessing all available evidence, especially for patients with longer prior ERT duration.
Late-onset Pompe disease (LOPD) is a rare, progressive neuromuscular condition typically characterized by weakness of skeletal muscles, including those involved in respiration and diaphragmatic dysfunction. Individuals with LOPD typically eventually require mobility and/or ventilatory support. This study aimed to develop health state vignettes and estimate health state utility values for LOPD in the United Kingdom.
View Article and Find Full Text PDFBackground: Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for health care professionals (HCPs), which in turn has a significant effect on the patient's quality of life (QoL).
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