Where am I?

Australian CADASIL

Who it’s for: Survivors of stroke, family members or carers, people who haven’t had a stroke
What it involves: Clinical tests
Where: In-person NSW, VIC, QLD

Summary

Researchers from University of New South Wales are conducting the first cohort study of CADASIL in Australia. They are interested in how CADASIL presents and progresses including in the brain (MRI and tasks of thinking and memory), blood and eye. Many aspects of CADASIL are poorly understood, and there are currently no effective treatments to cure it or stop its progression.

What is CADASIL?

CADASIL is an abbreviation for a long name describing a rare hereditary form of stroke (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). The disease usually presents with multiple small strokes, but migraine can also be a prominent feature. CADASIL is a genetic condition caused by variant in a gene called NOTCH3. CADASIL is diagnosed based on clinical history, a physical examination, and other investigations which include a brain MRI scan and a genetic test.

Visit the study website for more

Eligibility

This study is looking for volunteers who are:

  • aged 18 or over
  • people with diagnosed CADASIL, CADASIL symptoms or a family history of CADASIL
  • people without CADASIL
  • family members are also invited.

The research team will do a full eligibility screen on the phone.

Activity

To start with, the researchers ask participants to complete online or in-person questionnaires (1 hour) and attend a study visit (1 full day or 2 half days).

Assessments include:

  • Fasting blood test
  • MRI brain scan
  • Cognitive assessment
  • Non-invasive physical examination
  • Questionnaires about health and wellbeing and vision assessment (at some study sites)

Study sites are located at Sydney (Randwick), Newcastle, Melbourne and Brisbane.

Participants do not have to complete all assessments to participate in the study and can withdraw at any time.

The research team will provide feedback after the assessments.

There is an option for annual follow-up (including cognitive assessment, medical history and baseline questionnaire).

Documents

Participant information sheet (PDF 534 KB)

Contact

Dr Danit Saks, Study coordinator
Phone: 02 9348 1658
Email: auscadasil@unsw.edu.au