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2015 ; 10
(ä): 112
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A conceptual disease model for adult Pompe disease
#MMPMID26374742
Kanters TA
; Redekop WK
; Rutten-Van Mölken MP
; Kruijshaar ME
; Güngör D
; van der Ploeg AT
; Hakkaart L
Orphanet J Rare Dis
2015[Sep]; 10
(ä): 112
PMID26374742
show ga
BACKGROUND: Studies in orphan diseases are, by nature, confronted with small
patient populations, meaning that randomized controlled trials will have limited
statistical power. In order to estimate the effectiveness of treatments in orphan
diseases and extrapolate effects into the future, alternative models might be
needed. The purpose of this study is to develop a conceptual disease model for
Pompe disease in adults (an orphan disease). This conceptual model describes the
associations between the most important levels of health concepts for Pompe
disease in adults, from biological parameters via physiological parameters,
symptoms and functional indicators to health perceptions and final health
outcomes as measured in terms of health-related quality of life. METHODS: The
structure of the Wilson-Cleary health outcomes model was used as a blueprint, and
filled with clinically relevant aspects for Pompe disease based on literature and
expert opinion. Multiple observations per patient from a Dutch cohort study in
untreated patients were used to quantify the relationships between the different
levels of health concepts in the model by means of regression analyses. RESULTS:
Enzyme activity, muscle strength, respiratory function, fatigue, level of
handicap, general health perceptions, mental and physical component scales and
utility described the different levels of health concepts in the Wilson-Cleary
model for Pompe disease. Regression analyses showed that functional status was
affected by fatigue, muscle strength and respiratory function. Health perceptions
were affected by handicap. In turn, self-reported quality of life was affected by
health perceptions. CONCLUSIONS: We conceptualized a disease model that
incorporated the mechanisms believed to be responsible for impaired quality of
life in Pompe disease. The model provides a comprehensive overview of various
aspects of Pompe disease in adults, which can be useful for both clinicians and
policymakers to support their multi-faceted decision making.
|*Models, Theoretical
[MESH]
|Decision Making
[MESH]
|Female
[MESH]
|Glycogen Storage Disease Type II/*psychology
[MESH]
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