Status:
RECRUITING
AusCADASIL: An Australian Cohort of CADASIL
Lead Sponsor:
Perminder Sachdev
Collaborating Sponsors:
Prince of Wales Hospital, Sydney
John Hunter Hospital
Conditions:
Cadasil
Eligibility:
All Genders
18+ years
Brief 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...
Detailed 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 CADASI...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- 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 criteria:
- 1\. Significant cognitive impairment leading to an inability to provide informed consent.
Exclusion
Key Trial Info
Start Date :
November 25 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 31 2027
Estimated Enrollment :
300 Patients enrolled
Trial Details
Trial ID
NCT06148051
Start Date
November 25 2023
End Date
March 31 2027
Last Update
May 8 2024
Active Locations (5)
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1
John Hunter Hospital
Newcastle, New South Wales, Australia, 2305
2
Prince of Wales Hospital
Sydney, New South Wales, Australia, 2031
3
University of New South Wales
Sydney, New South Wales, Australia, 2031
4
Royal Brisbane and Women's Hospital
Brisbane, Queensland, Australia, 4006