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标题：Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
其他标题：Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
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作者：Mousumi Bose ; David D. Cuthbertson ; Marsha A. Fraser 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：25
页码：100694
DOI：10.1016/j.ymgmr.2020.100694
出版社：Elsevier B.V.
摘要：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.
关键词：Peroxisome biogenesis disorder ; Rare disease ; Surveys and questionnaires ; Cross-sectional study ; Symptom prevalence ; Caregiver report ; Zellweger spectrum disorders ; DMCC Data Management and Coordinating Center ; DXA dual-energy x-ray absorptiometry ; EEG Electroencephalogram ; GFPD Global Foundation for Peroxisomal Disorders ; MRI Magnetic Resonance Imaging ; PBDs Peroxisome biogenesis disorders ; RDCRN Rare Diseases Clinical Research Network ; STAIR Sterol and Isoprenoid Research Consortium ; ZSD Zellweger Spectrum Disorder