AusCADASIL: An Australian Cohort of CADASIL

AusCADASIL: An Australian Cohort of CADASIL

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.

Using clinical examination, questionnaires, neuropsychological evaluation, brain MRI, blood sample evaluation and retinal imaging, we aim to characterise the clinical profile and progression of CADASIL in an Australian cohort.

This is multi-centre observational cohort study currently based at six sites (clinics, hospitals and universities) across three states in Australia (New South Wales, Victoria and Queensland). The multidisciplinary team aims to be the first to develop an Australian cohort of CADASIL which will contribute to global efforts and understanding of the disease.

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.