AusCADASIL: An Australian Cohort of CADASIL

Recruiting now

Conditions studied: Cadasil

In brief

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.

Key facts

Study ID

NCT06148051

Run by

Perminder Sachdev

People needed

300

Starts

2023-11-25

Expected to finish

2027-03-31

Last updated by the study team

2024-05-08

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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)

You may not qualify if…

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

Where it is running

• John Hunter Hospital — Newcastle, New South Wales, Australia (enrolling)
• Prince of Wales Hospital — Sydney, New South Wales, Australia (enrolling)
• University of New South Wales — Sydney, New South Wales, Australia (enrolling)
• Royal Melbourne Hospital — Melbourne, Victoria, Australia (enrolling)
• Royal Brisbane and Women's Hospital — Brisbane, Queensland, Australia

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.