A conceptual disease model for adult Pompe disease.
Kanters TA, Redekop WK, Rutten-Van Mölken MP, Kruijshaar ME, Güngör D, van der Ploeg AT, Hakkaart L
Orphanet journal of rare diseases, 2015 Sep 15
Abstract
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.