Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
300 participants
OBSERVATIONAL
2023-11-25
2027-03-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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CADASIL cohort
No interventions assigned to this group
Control Cohort
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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 difficulties who may require extra support
3. Ability to attend a testing site
4. Ability to complete minimum dataset (medical examination and medical history questionnaire, blood test to determine genetic status and a short (20 minute) neuropsychology assessment).
5. CADASIL participants according to one of the following categories:
1. confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR
2. suspected diagnosis based on medical history and brain MRI, OR
3. 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
18 Years
ALL
Yes
Sponsors
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Prince of Wales Hospital, Sydney
OTHER_GOV
John Hunter Hospital
OTHER_GOV
St Vincent's Hospital - Sydney, Australia
OTHER
Royal Brisbane and Women's Hospital
OTHER_GOV
Melbourne Health
OTHER
The University of Queensland
OTHER
Perminder Sachdev
OTHER
Responsible Party
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Perminder Sachdev
Professor
Principal Investigators
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Perminder S Sachdev, MBBS, MD, PhD, FRANZCP, FAAHMS
Role: PRINCIPAL_INVESTIGATOR
University of New South Wales
Locations
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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
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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AusCADASIL
Identifier Type: -
Identifier Source: org_study_id
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