Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL

J. H. P. Wilson,D. J. Wright,G. Biolcati,S. Hanneken,A. J. Lloyd,P. J. Wolgen,N. J. Neumann,E. I. Minder

doi:10.1186/s41687-021-00345-7

J. H. P. Wilson, D. J. Wright + Show 6 more

Open Access

https://doi.org/10.1186/s41687-021-00345-7

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Abstract

BackgroundA novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light). To fully understand the burden of EPP and the benefit of treatment, a novel patient reported outcome (PRO) measure was developed called the EPP-QoL. This report describes work to support the validation of this measure.MethodsSecondary analysis of trial data was undertaken. These analyses explored the underlying factor structure of the measure. This supported the deletion of some items. Further work then explored the reliability of these factors, their construct validity and estimates of meaningful change.ResultsThe factor analyses indicated that the items could be summarised in terms of two factors. One of these was labelled EPP Symptoms and the other EPP Wellbeing, based on the items included in the domain. EPP Symptoms had evidence to support its reliability and validity. EPP Wellbeing had poor psychometric properties.ConclusionsBased on the analysis it was recommended to drop the EPP Wellbeing domain (and associated items). EPP Symptoms, despite limitations in the development of items, showed evidence of validity. This work is consistent with the recommendations of a task force that provided recommendations regarding the development, modification and use of PROs in rare diseases.

Highlights

Erythropoietic protoporphyria (EPP) is a rare metabolic disease characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes and plasma [1, 12]
Because of the nature of the disease and the protective effect of the treatment, a major outcome to be assessed is the impact on health related quality of life and other patient reported outcomes such as daily activities
Development of the erythropoietic protoporphyria (EPP)-QoL The EPP-Qol was developed through a process of expert clinical consultation

Summary

Introduction

Erythropoietic protoporphyria (EPP) is a rare metabolic disease characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma [1, 12]. When exposed to light in the visible spectrum, protoporphyrin IX is activated resulting in severe phototoxicity [12]. EPP patients show sensitivity to visible rather than UV light and it manifests in painful phototoxicity. Because of the nature of the disease and the protective effect of the treatment, a major outcome to be assessed is the impact on health related quality of life and other patient reported outcomes such as daily activities. A novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light). To fully understand the burden of EPP and the benefit of treatment, a novel patient reported outcome (PRO) measure was developed called the EPP-QoL. This report describes work to support the validation of this measure

Methods

Results

Conclusion