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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFChallenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.
J Neurol
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle-upon-Tyne, UK.
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The primary endpoint was change in 6-min walk distance (6MWD) from baseline to week 52. During PROPEL, COVID-19 interrupted some planned study visits and assessment windows, leading to delayed visits, make-up assessments for patients who missed ≥ 3 successive infusions before planned assessments at weeks 38 and 52, and some advanced visits (end-of-study/early-termination visits).
View Article and Find Full Text PDFPredicting the phenotype of Pompe Disease from features of GAA variants.
Eur J Hum Genet
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA.
As the management of Pompe disease depends on whether an individual has infantile onset Pompe disease (IOPD) or late onset Pompe disease (LOPD), the question of whether the phenotype can be predicted from specific pathogenic variants is becoming increasingly important. We reviewed published cases of Pompe disease in which IOPD versus LOPD and pathogenic GAA variants were assigned for specific individuals. We then compared variant types and locations versus phenotypes.
View Article and Find Full Text PDFExploring 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.
J Health Econ Outcomes Res
January 2025
Australian Pompe Association, Sydney, Australia.
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.
View Article and Find Full Text PDFAdvances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders.
Semin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Article Synopsis
- Neuromuscular disorders significantly impact respiratory function by affecting the muscles involved in breathing, leading to high rates of morbidity and mortality, but new therapies have emerged to help combat these issues.
- Recent FDA-approved treatments for Myasthenia Gravis (MG) and Spinal Muscular Atrophy (SMA) show promising results; therapies targeting the complement system or enhancing SMN protein production improve respiratory function and overall clinical outcomes.
- While advancements in treating Late-Onset Pompe Disease (LOPD) and Amyotrophic Lateral Sclerosis (ALS) have been made, the latter still presents challenges, with new drugs only managing to slow progression rather than halt it.
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