A conceptual disease model for adult Pompe disease
A conceptual disease model for adult Pompe disease
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DOI：
10.1186/s13023-015-0334-6
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发表时间：
2015-09-15
影响因子：
3.7
通讯作者：
Hakkaart, Leona
中科院分区：
文献类型：
--
作者：
Kanters, Tim A.;Redekop, W. Ken;Hakkaart, Leona
背景：孤儿疾病的研究本质上是针对较小的患者群体，这意味着随机对照试验的统计能力有限。为了估计孤儿疾病治疗的有效性并推断未来的影响，可能需要替代模型。本研究的目的是开发成人庞贝氏症（一种孤儿病）的概念疾病模型。该概念模型描述了成人庞贝氏病最重要的健康概念之间的关联，从生物参数到生理参数、症状和功能指标，再到健康认知和以健康相关生活质量衡量的最终健康结果。方法：以 Wilson-Cleary 健康结果模型的结构为蓝图，并根据文献和专家意见填充庞贝氏病的临床相关方面。荷兰队列研究对未经治疗的患者进行了多项观察，通过回归分析量化模型中不同水平的健康概念之间的关系。结果：酶活性、肌肉力量、呼吸功能、疲劳、障碍程度、一般健康认知、精神和身体成分量表和效用描述了庞贝病 Wilson-Cleary 模型中不同水平的健康概念。回归分析表明，功能状态受到疲劳、肌肉力量和呼吸功能的影响。健康观念受到障碍的影响。反过来，自我报告的生活质量受到健康认知的影响。结论：我们概念化了一种疾病模型，其中纳入了据信导致庞贝病生活质量受损的机制。该模型全面概述了成人庞贝氏病的各个方面，这对于临床医生和政策制定者支持他们的多方面决策很有用。
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.