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AusCADASIL: An Australian Cohort of CADASIL

Recruitingn/aAges 18 Years - anyAllPerminder Sachdev
NCT06148051 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The aim of this project is to establish an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). This study will examine the clinical features and longitudinal course of CADASIL. Outcome measures include neuropsychological profile, neuroimaging, genetics, blood biomarkers, and retinal imaging.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

5 sites
John Hunter Hospital
Newcastle, Australia
Prince of Wales Hospital
Sydney, Australia
University of New South Wales
Sydney, Australia
Royal Brisbane and Women's Hospital
Brisbane, Australia
Royal Melbourne Hospital
Melbourne, Australia
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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