AusCADASIL: An Australian Cohort of CADASIL

Last updated: May 7, 2024
Sponsor: Perminder Sachdev
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT06148051
AusCADASIL
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

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.

Eligibility Criteria

Inclusion

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 difficultieswho may require extra support
  1. Ability to attend a testing site
  2. Ability to complete minimum dataset (medical examination and medical historyquestionnaire, blood test to determine genetic status and a short (20 minute)neuropsychology assessment).
  3. CADASIL participants according to one of the following categories:
  4. confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR
  5. suspected diagnosis based on medical history and brain MRI, OR
  6. first degree relative of participant who is positive for NOTCH3 pathogenicvariant OR 6. Unrelated individual who is negative for the NOTCH3 pathogenic variant, and has nocognitive complaints (i.e. control participant)

Exclusion

Exclusion criteria:

  1. Significant cognitive impairment leading to an inability to provide informed consent.

Study Design

Total Participants: 300
Study Start date:
November 25, 2023
Estimated Completion Date:
March 31, 2027

Study Description

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.

Connect with a study center

  • University of New South Wales

    Sydney, New South Wales 2031
    Australia

    Active - Recruiting

    0.17 miles

  • Prince of Wales Hospital

    Sydney, New South Wales 2031
    Australia

    Active - Recruiting

    0.17 miles

  • John Hunter Hospital

    Newcastle, New South Wales 2305
    Australia

    Active - Recruiting

    72.88 miles

  • Royal Melbourne Hospital

    Melbourne, Victoria 3052
    Australia

    Active - Recruiting

    443.22 miles

  • Royal Brisbane and Women's Hospital

    Brisbane, Queensland 4006
    Australia

    Site Not Available

    455.31 miles

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