Introduction: The clinical course of late-onset Pompe disease is heterogeneous, and new clinical outcome measures are needed to evaluate enzyme replacement therapy (ERT).
Methods: We correlated the 6-Minute Walk Test (6MWT), Walton and Gardner-Medwin (WGM) score, and GSGC (Gait, Stairs, Gower, Chair) scores in 40 patients.
Results: At baseline, the GSGC score correlated with both WGM (P < 0.001, n = 33) and 6MWT (P < 0.001, n = 26). After 1 year of ERT, we observed a significant change in gait, stairs and chair performance on the GSGC scale. The 6MWT significantly increased from 319 to 371 meters in 32 patients, and the WGM score was reduced.
Conclusions: GSGC is a group of functional tests that requires only a few minutes to perform, therefore, this score might be a good indicator to be used in future studies.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/mus.23340 | DOI Listing |
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 PDFEur 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 PDFJ 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 PDFSemin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Front Genet
November 2024
Sanofi Global Medical Affairs Rare Diseases, Sanofi, Cambridge, MA, United States.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!