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A conceptual disease model for adult Pompe disease
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, alternativ...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570629/ https://www.ncbi.nlm.nih.gov/pubmed/26374742 http://dx.doi.org/10.1186/s13023-015-0334-6 |
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author | Kanters, Tim A. Redekop, W. Ken Rutten-Van Mölken, Maureen P.M.H. Kruijshaar, Michelle E. Güngör, Deniz van der Ploeg, Ans T. Hakkaart, Leona |
author_facet | Kanters, Tim A. Redekop, W. Ken Rutten-Van Mölken, Maureen P.M.H. Kruijshaar, Michelle E. Güngör, Deniz van der Ploeg, Ans T. Hakkaart, Leona |
author_sort | Kanters, Tim A. |
collection | PubMed |
description | 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-015-0334-6) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4570629 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-45706292015-09-16 A conceptual disease model for adult Pompe disease Kanters, Tim A. Redekop, W. Ken Rutten-Van Mölken, Maureen P.M.H. Kruijshaar, Michelle E. Güngör, Deniz van der Ploeg, Ans T. Hakkaart, Leona Orphanet J Rare Dis Research 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-015-0334-6) contains supplementary material, which is available to authorized users. BioMed Central 2015-09-15 /pmc/articles/PMC4570629/ /pubmed/26374742 http://dx.doi.org/10.1186/s13023-015-0334-6 Text en © Kanters et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Kanters, Tim A. Redekop, W. Ken Rutten-Van Mölken, Maureen P.M.H. Kruijshaar, Michelle E. Güngör, Deniz van der Ploeg, Ans T. Hakkaart, Leona A conceptual disease model for adult Pompe disease |
title | A conceptual disease model for adult Pompe disease |
title_full | A conceptual disease model for adult Pompe disease |
title_fullStr | A conceptual disease model for adult Pompe disease |
title_full_unstemmed | A conceptual disease model for adult Pompe disease |
title_short | A conceptual disease model for adult Pompe disease |
title_sort | conceptual disease model for adult pompe disease |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570629/ https://www.ncbi.nlm.nih.gov/pubmed/26374742 http://dx.doi.org/10.1186/s13023-015-0334-6 |
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