Australian Study of CADASIL Tracking Clinical Features and Progression Observational Multi-Center Cohort Including Genetic Testing and Brain Imaging

What this Trial Is About

Researchers are establishing an Australian group of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy CADASIL. The study aims to understand the clinical features and how CADASIL progresses over time. It focuses on examining neuropsychological profiles, brain imaging, genetics, blood markers, and retinal imaging to gather comprehensive information about this condition. This observational study is conducted at multiple centers across Australia, including clinics, hospitals, and universities. Participants undergo clinical exams, questionnaires, neuropsychological tests, brain MRI scans, blood sample collection, and retinal imaging. The study includes both individuals with CADASIL and control participants without the genetic variant or cognitive complaints. Participants will complete assessments at the start and annually over four years, including medical questionnaires, cognitive tests, brain scans, blood tests, and eye exams. These evaluations measure cognitive function, physical health, brain changes, and quality of life. Researchers will monitor participants progress over time to better understand CADASIL and its impact.

AusCADASIL: An Australian Cohort of CADASIL