Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and symptoms associated with ZSD, there are few r...
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doaj-16075265bf244d0896a01a56d9b2f3002020-12-19T05:07:26ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100694Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregiversMousumi Bose0David D. Cuthbertson1Marsha A. Fraser2Jean-Baptiste Roullet3K. Michael Gibson4Dana R. Schules5Kelly M. Gawron6Melissa B. Gamble7Kathryn M. Sacra8Melisa J. Lopez9William B. Rizzo10Department of Nutrition and Food Stsudies, Montclair State University, 1 Normal Avenue, UN 2159, Montclair, NJ 07043, USA; Corresponding author.Department of Health Informatics Institute, College of Medicine Pediatrics, University of South Florida, 4202 E Fowler Ave, Tampa, FL 33620, USADepartment of Health Informatics Institute, College of Medicine Pediatrics, University of South Florida, 4202 E Fowler Ave, Tampa, FL 33620, USADepartment of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Blvd, Spokane, WA 99210, USADepartment of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Blvd, Spokane, WA 99210, USADepartment of Nutrition and Food Stsudies, Montclair State University, 1 Normal Avenue, UN 2159, Montclair, NJ 07043, USADepartment of Nutrition and Food Stsudies, Montclair State University, 1 Normal Avenue, UN 2159, Montclair, NJ 07043, USAGlobal Foundation for Peroxisomal Disorders, P.O. Box 33238, Tulsa, OK 74153, USAGlobal Foundation for Peroxisomal Disorders, P.O. Box 33238, Tulsa, OK 74153, USAGlobal Foundation for Peroxisomal Disorders, P.O. Box 33238, Tulsa, OK 74153, USADepartment of Pediatrics, University of Nebraska Medical Center University of Nebraska, 985940 Nebraska Medical Center – DRC II 4064, Omaha, NE 68198-5940, USAZellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and symptoms associated with ZSD, there are few reports on the prevalence of symptoms to help inform the development of meaningful endpoints for future clinical trials in ZSD. In the present study, we used an online survey tool completed by family caregivers to study the occurrence, frequency and severity of symptoms in individuals diagnosed with ZSD. Responses from caregivers representing 54 living and 25 deceased individuals with ZSD were collected over an 8-month period. Both perception of disease severity and prevalence of various symptoms were greater in responses from family caregivers of deceased individuals compared to those of living individuals with ZSD. Compared with previous reports for ZSD, the combined prevalence of seizures (53%) and adrenal insufficiency (45%) were nearly twice as high. Overall, this community-engaged approach to rare disease data collection is the largest study reporting on the prevalence of symptoms in ZSD, and our findings suggest that previous reports may be underreporting the true prevalence of several symptoms in ZSD. Studies such as this used in conjunction with clinician- led reports may be useful for informing the design of future clinical trials addressing ZSD.http://www.sciencedirect.com/science/article/pii/S2214426920301403Peroxisome biogenesis disorderRare diseaseSurveys and questionnairesCross-sectional studySymptom prevalenceCaregiver report |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mousumi Bose David D. Cuthbertson Marsha A. Fraser Jean-Baptiste Roullet K. Michael Gibson Dana R. Schules Kelly M. Gawron Melissa B. Gamble Kathryn M. Sacra Melisa J. Lopez William B. Rizzo |
spellingShingle |
Mousumi Bose David D. Cuthbertson Marsha A. Fraser Jean-Baptiste Roullet K. Michael Gibson Dana R. Schules Kelly M. Gawron Melissa B. Gamble Kathryn M. Sacra Melisa J. Lopez William B. Rizzo Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers Molecular Genetics and Metabolism Reports Peroxisome biogenesis disorder Rare disease Surveys and questionnaires Cross-sectional study Symptom prevalence Caregiver report |
author_facet |
Mousumi Bose David D. Cuthbertson Marsha A. Fraser Jean-Baptiste Roullet K. Michael Gibson Dana R. Schules Kelly M. Gawron Melissa B. Gamble Kathryn M. Sacra Melisa J. Lopez William B. Rizzo |
author_sort |
Mousumi Bose |
title |
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers |
title_short |
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers |
title_full |
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers |
title_fullStr |
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers |
title_full_unstemmed |
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers |
title_sort |
zellweger spectrum disorder: a cross-sectional study of symptom prevalence using input from family caregivers |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2020-12-01 |
description |
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and symptoms associated with ZSD, there are few reports on the prevalence of symptoms to help inform the development of meaningful endpoints for future clinical trials in ZSD. In the present study, we used an online survey tool completed by family caregivers to study the occurrence, frequency and severity of symptoms in individuals diagnosed with ZSD. Responses from caregivers representing 54 living and 25 deceased individuals with ZSD were collected over an 8-month period. Both perception of disease severity and prevalence of various symptoms were greater in responses from family caregivers of deceased individuals compared to those of living individuals with ZSD. Compared with previous reports for ZSD, the combined prevalence of seizures (53%) and adrenal insufficiency (45%) were nearly twice as high. Overall, this community-engaged approach to rare disease data collection is the largest study reporting on the prevalence of symptoms in ZSD, and our findings suggest that previous reports may be underreporting the true prevalence of several symptoms in ZSD. Studies such as this used in conjunction with clinician- led reports may be useful for informing the design of future clinical trials addressing ZSD. |
topic |
Peroxisome biogenesis disorder Rare disease Surveys and questionnaires Cross-sectional study Symptom prevalence Caregiver report |
url |
http://www.sciencedirect.com/science/article/pii/S2214426920301403 |
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