NCT06148051 · RECRUITING
AusCADASIL: An Australian Cohort of CADASIL
This study is building a long-term registry of Australians with CADASIL, a rare inherited condition that damages small blood vessels in the brain. Researchers will track symptoms, brain scans, blood markers, genetics, and cognitive testing over time to better understand how the disease progresses. This is an observational cohort study, not a treatment trial, so no drugs or interventions are being tested.
Eligibility criteria
Inclusion criteria: 1. Adults ≥18 years old 2. Ability to provide written informed consent * A large-print version is available for individuals with visual impairment * An easy-to-read version is available for individuals with cognitive difficulties who may require extra support 3. Ability to attend a testing site 4. Ability to complete minimum dataset (medical examination and medical history questionnaire, blood test to determine genetic status and a short (20 minute) neuropsychology assessment). 5. CADASIL participants according to one of the following categories: 1. confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR 2. suspected diagnosis based on medical history and brain MRI, OR 3. first degree relative of participant who is positive for NOTCH3 pathogenic variant OR 6. Unrelated individual who is negative for the NOTCH3 pathogenic variant, and has no cognitive complaints (i.e. control participant) Exclusion criteria: 1. Significant cognitive impairment leading to an inability to provide informed consent.
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2024-05-08