Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Background: Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to irreversible and life-threatening renal, cardiac, and cerebrovascular events. FD symptoms impact daily functioning and quality of life, but no disease-specific measure of these symptoms has been psychometrica...

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Autores principales:	Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Charlie Iaconangelo, Daniel Serrano, Vijay Modur, Juan Politei
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Fabry disease Patient-reported outcome Psychometrics Validation Lysosomal storage disorder FD-PRO Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/d3371297b9c04aab9730b92e45a82f01
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spelling	oai:doaj.org-article:d3371297b9c04aab9730b92e45a82f012021-11-20T05:06:20ZFabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease2214-426910.1016/j.ymgmr.2021.100824https://doaj.org/article/d3371297b9c04aab9730b92e45a82f012021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921001191https://doaj.org/toc/2214-4269Background: Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to irreversible and life-threatening renal, cardiac, and cerebrovascular events. FD symptoms impact daily functioning and quality of life, but no disease-specific measure of these symptoms has been psychometrically tested. Methods: The Fabry Disease Patient-Reported Outcome (FD-PRO) consists of 19 items that measure neuropathic symptoms (pain, tingling, numbness and burning in upper/lower extremities), headache, abdominal pain, heat intolerance, swelling, tinnitus, fatigue, hearing/vision impairment, hypohidrosis (diminished sweating) and difficulty engaging in regular physical activities in the past 24 h. Measurement properties of the instrument were evaluated among 139 adult (≥ 18 years) FD diagnosed patients (enzyme deficiency in males; GLA genotyping in females) including enzyme replacement (ERT) treated or treatment-naïve patients, classic or late-onset phenotypes from ten countries and eighteen sites. Patients completed the FD-PRO daily on a handheld electronic diary for 4 weeks; demographic, other patient and clinician reported outcomes were also collected. Results: The mean age of patients was 43 years; with even sex distribution (female: 53%) and majority was ERT treated (72%). Patient compliance was high; ≥ 87% completed at least 4 FD-PRO entries each week (mean completion time: < 3 min in week one). Empirical evaluation of item properties via inter-item correlations, exploratory factor analysis and item-response theory models suggested that a total symptom score (TSS) could be calculated. Due to redundancy among items, a “neuropathy parcel” and an “audiovisual parcel” were created in generating the TSS (items within a parcel averaged and treated as a single item). Two items were excluded from TSS: sweating (did not correlate with other items) and difficulty engaging in regular physical activities (measure of impact, not symptoms). Internal consistency (Cronbach's alpha) of the TSS was ≥0.89 across weeks; test-retest reliability (intraclass correlation coefficient) was ≥0.91. The TSS was correlated with conceptually similar clinical and patient reported assessments as expected (r > \|0.4\|) and discriminated moderate/severe from least severe FD groups in known-groups validity analyses. Conclusions: The FD-PRO instrument is a novel disease-specific instrument that assesses classic and non-classic symptoms, with strong psychometric properties and appropriate for use in clinical studies.Alaa HamedPronabesh DasMahapatraNicole LynChad GwaltneyCharlie IaconangeloDaniel SerranoVijay ModurJuan PoliteiElsevierarticleFabry diseasePatient-reported outcomePsychometricsValidationLysosomal storage disorderFD-PROMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100824- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Fabry disease Patient-reported outcome Psychometrics Validation Lysosomal storage disorder FD-PRO Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Fabry disease Patient-reported outcome Psychometrics Validation Lysosomal storage disorder FD-PRO Medicine (General) R5-920 Biology (General) QH301-705.5 Alaa Hamed Pronabesh DasMahapatra Nicole Lyn Chad Gwaltney Charlie Iaconangelo Daniel Serrano Vijay Modur Juan Politei Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
description	Background: Fabry disease (FD) is a rare, genetic disease, that if untreated, progresses to irreversible and life-threatening renal, cardiac, and cerebrovascular events. FD symptoms impact daily functioning and quality of life, but no disease-specific measure of these symptoms has been psychometrically tested. Methods: The Fabry Disease Patient-Reported Outcome (FD-PRO) consists of 19 items that measure neuropathic symptoms (pain, tingling, numbness and burning in upper/lower extremities), headache, abdominal pain, heat intolerance, swelling, tinnitus, fatigue, hearing/vision impairment, hypohidrosis (diminished sweating) and difficulty engaging in regular physical activities in the past 24 h. Measurement properties of the instrument were evaluated among 139 adult (≥ 18 years) FD diagnosed patients (enzyme deficiency in males; GLA genotyping in females) including enzyme replacement (ERT) treated or treatment-naïve patients, classic or late-onset phenotypes from ten countries and eighteen sites. Patients completed the FD-PRO daily on a handheld electronic diary for 4 weeks; demographic, other patient and clinician reported outcomes were also collected. Results: The mean age of patients was 43 years; with even sex distribution (female: 53%) and majority was ERT treated (72%). Patient compliance was high; ≥ 87% completed at least 4 FD-PRO entries each week (mean completion time: < 3 min in week one). Empirical evaluation of item properties via inter-item correlations, exploratory factor analysis and item-response theory models suggested that a total symptom score (TSS) could be calculated. Due to redundancy among items, a “neuropathy parcel” and an “audiovisual parcel” were created in generating the TSS (items within a parcel averaged and treated as a single item). Two items were excluded from TSS: sweating (did not correlate with other items) and difficulty engaging in regular physical activities (measure of impact, not symptoms). Internal consistency (Cronbach's alpha) of the TSS was ≥0.89 across weeks; test-retest reliability (intraclass correlation coefficient) was ≥0.91. The TSS was correlated with conceptually similar clinical and patient reported assessments as expected (r > \|0.4\|) and discriminated moderate/severe from least severe FD groups in known-groups validity analyses. Conclusions: The FD-PRO instrument is a novel disease-specific instrument that assesses classic and non-classic symptoms, with strong psychometric properties and appropriate for use in clinical studies.
format	article
author	Alaa Hamed Pronabesh DasMahapatra Nicole Lyn Chad Gwaltney Charlie Iaconangelo Daniel Serrano Vijay Modur Juan Politei
author_facet	Alaa Hamed Pronabesh DasMahapatra Nicole Lyn Chad Gwaltney Charlie Iaconangelo Daniel Serrano Vijay Modur Juan Politei
author_sort	Alaa Hamed
title	Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
title_short	Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
title_full	Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
title_fullStr	Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
title_full_unstemmed	Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
title_sort	fabry disease patient-reported outcome (fd-pro) demonstrates robust measurement properties for assessing symptom severity in fabry disease
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/d3371297b9c04aab9730b92e45a82f01
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Fabry disease patient-reported outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

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