Positive Association Between Physical Outcomes and Patient-reported Outcomes in Late-onset Pompe Disease: a Cross Sectional Study

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2020 Sep 5

PMID 32883321

Citations 10

Authors

Meng Yuan

Eleni-Rosalina Andrinopoulou

Michelle E Kruijshaar

Aglina Lika

Laurike Harlaar

Ans T van der Ploeg

Dimitris Rizopoulos

Nadine A M E van der Beek

Affiliations

Soon will be listed here.

Abstract

Background: Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease.

Methods: We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-min walk test [6MWT]), and pulmonary function (forced vital capacity [FVC] in upright and supine positions). PROMs comprised quality of life (Short Form 36 health survey [SF-36]), participation (Rotterdam Handicap Scale [RHS]) and daily-life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale). Analyses were cross-sectional: the time-point before, and closest to, start of Enzyme Replacement Therapy was chosen. Associations between PROMs and physical outcomes were investigated using linear regression models.

Results: RHS and R-PAct scores were better in patients with higher FVC supine and upright, HHD, MRC and 6MWT scores, accounting for the effect of sex, disease duration, use of wheelchair and ventilator support. While the SF-36 Physical Component Summary (PCS) was correlated positively with FVC upright, HHD, MRC and 6MWT scores, there was no significant relationship between the SF-36 Mental Component Summary (MCS) and any of the physical outcomes.

Conclusions: Participation, daily-life activities, and the physical component of quality of life of adult Pompe patients are positively correlated to physical outcomes. This work serves as a first step towards assessing how changes over time in physical outcomes are related to changes in PROMs, and to define the minimal change in physical outcomes required to make an important difference for the patient.

Citing Articles

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.

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Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Kishnani P, Byrne B, Claeys K, Diaz-Manera J, Dimachkie M, Kushlaf H J Patient Rep Outcomes. 2024; 8(1):132.

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Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials.

Mozaffar T, Riou Franca L, Msihid J, Shukla P, Proskorovsky I, Zhou T Mol Genet Metab Rep. 2024; 40:101109.

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The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease.

Theunissen M, van den Elsen R, House T, Crittenden B, van Doorn P, van der Ploeg A J Neurol. 2023; 271(1):32-45.

PMID: 37982853 PMC: 10769914. DOI: 10.1007/s00415-023-11999-2.

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