Saks, Danit G. and Bajorek, Beata and Catts, Vibeke S. and Bentvelzen, Adam C. and Jiang, Jiyang and Wen, Wei and Mather, Karen A. and Thalamuthu, Anbupalam and Huang-Lung, Jessie and Nivison-Smith, Lisa and Griffiths, Lyn R. and Smith, Robert A. and Sexton, Adrienne and James, Paul and Jayasena, Tharusha and Poljak, Anne and Hansra, Gurpreet K. and Hosoki, Satoshi and Park, Ashley and Hillenbrand, Claudia M. and van Wijngaarden, Peter and Chander, Russell J. and Humphrey, Sam and Chen, Rory and Kochan, Nicole A. and Helman, Tessa J. and Levi, Christopher and Brodtmann, Amy and O'Sullivan, Michael J. and Markus, Romesh and Butcher, Ken and Parsons, Mark and Kovacic, Jason C. and Sachdev, Perminder S. (2024) The protocol for an observational Australian cohort study of CADASIL: The AusCADASIL study. Cerebral Circulation - Cognition and Behavior, 6. p. 100225. ISSN 26662450
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Abstract
INTRODUCTION: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition with a broad phenotypic presentation. This study aims to establish the first Australian cohort of individuals affected by CADASIL (AusCADASIL) and examine its clinical features and longitudinal course, and to investigate neuroimaging and blood biomarkers to assist in early diagnosis and identify disease progression. METHODS: Participants will be recruited from six study centres across Australia for an observational study of CADASIL. We aim to recruit 150 participants with diagnosed CADASIL, family history of CADASIL or suspected CADASIL symptoms, and 150 cognitively normal NOTCH3 negative individuals as controls. Participants will complete: 1) online questionnaires on medical and family history, mental health, and wellbeing; 2) neuropsychological evaluation; 3) neurological examination and brain MRI; 4) ocular examination and 5) blood sample donation. Participants will have annual follow-up for 4 years to assess their progression and will be asked to invite a study partner to corroborate their self-reported cognitive and functional abilities.Primary outcomes include cognitive function and neuroimaging abnormalities. Secondary outcomes include investigation of genetics and blood and ocular biomarkers. Data from the cohort will contribute to an international consortium, and cohort participants will be invited to access future treatment/health intervention trials. DISCUSSION: AusCADASIL will be the first study of an Australian cohort of individuals with CADASIL. The study will identify common pathogenic variants in this cohort, and characterise the pattern of clinical presentation and longitudinal progression, including imaging features, blood and ocular biomarkers and cognitive profile.
| Item Type: | Article |
|---|---|
| Subjects: | R Medicine > R Medicine (General) |
| Depositing User: | Repository Administrator |
| Date Deposited: | 24 Dec 2024 03:15 |
| Last Modified: | 24 Dec 2024 03:16 |
| URI: | https://eprints.victorchang.edu.au/id/eprint/1568 |
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