In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 46, No. 4 ( 2023-07), p. 595-604
Abstract:
Pompe disease is a rare, progressive, and metabolic myopathy. Reduced pulmonary function is one of the main problems seen in adult patients with late‐onset Pompe disease (LOPD). We aimed to explore the association between changes over time in pulmonary function and in patient‐reported outcome measures (PROMs), in these patients treated with enzyme replacement therapy (ERT). This is a post hoc analysis of two cohort studies. Pulmonary function was assessed as forced vital capacity in the upright position (FVC up ). As PROMs, we assessed the physical component summary score (PCS) of the Medical Outcome Study 36‐item Short‐Form Health Survey (SF‐36) and daily life activities (Rasch‐Built Pompe‐Specific Activity [R‐PACT] scale). We fitted Bayesian multivariate mixed‐effects models. In the models of PROMs, we assumed a linear association with FVC up , and adjusted for time (nonlinear), sex, and age and disease duration at the start of ERT. One hundred and one patients were eligible for analysis. PCS and R‐PAct were positively associated with FVC up , while their relation with time was nonlinear (initial increase then decrease). A 1%‐point increase in FVC up is expected to increase PCS by 0.14 points (95% Credible Interval: [0.09;0.19]) and R‐PACT by 0.41 points [0.33;0.49] at the same time point. In the first year of ERT, we expect a change of PCS and R‐PAct scores by +0.42 and +0.80 points, and in the 5th year of +0.16 and +0.45, respectively. We conclude that the physical domain of quality of life and daily life activities improve when FVC up increases during ERT.
Type of Medium:
Online Resource
ISSN:
0141-8955
,
1573-2665
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
2006875-X
