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RecruitingNCT06148051

AusCADASIL: An Australian Cohort of CADASIL

Sponsor

Perminder Sachdev

Enrollment

300 participants

Start Date

Nov 25, 2023

Study Type

OBSERVATIONAL

Conditions

Cadasil

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

Min Age: 18 Years

Inclusion Criteria11

  • Adults ≥18 years old
  • 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
  • Ability to attend a testing site
  • Ability to complete minimum dataset (medical examination and medical history questionnaire, blood test to determine genetic status and a short (20 minute) neuropsychology assessment).
  • CADASIL participants according to one of the following categories:
  • confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR
  • suspected diagnosis based on medical history and brain MRI, OR
  • 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 Criteria1

  • \. Significant cognitive impairment leading to an inability to provide informed consent.
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Locations(5)

John Hunter Hospital

Newcastle, New South Wales, Australia

Prince of Wales Hospital

Sydney, New South Wales, Australia

University of New South Wales

Sydney, New South Wales, Australia

Royal Brisbane and Women's Hospital

Brisbane, Queensland, Australia

Royal Melbourne Hospital

Melbourne, Victoria, Australia

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