AusCADASIL: An Australian Cohort of CADASIL

NCT ID: NCT06148051

Last Updated: 2024-05-08

Study Results

Results pending

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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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-11-25

Study Completion Date

2027-03-31

Brief Summary

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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.

Detailed Description

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Using clinical examination, questionnaires, neuropsychological evaluation, brain MRI, blood sample evaluation and retinal imaging, we aim to characterise the clinical profile and progression of CADASIL in an Australian cohort.

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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Cadasil

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

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

1. Adults ≥18 years old
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

1\. Significant cognitive impairment leading to an inability to provide informed consent.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Prince of Wales Hospital, Sydney

OTHER_GOV

Sponsor Role collaborator

John Hunter Hospital

OTHER_GOV

Sponsor Role collaborator

St Vincent's Hospital - Sydney, Australia

OTHER

Sponsor Role collaborator

Royal Brisbane and Women's Hospital

OTHER_GOV

Sponsor Role collaborator

Melbourne Health

OTHER

Sponsor Role collaborator

The University of Queensland

OTHER

Sponsor Role collaborator

Perminder Sachdev

OTHER

Sponsor Role lead

Responsible Party

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Perminder Sachdev

Professor

Responsibility Role SPONSOR_INVESTIGATOR

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

Site Status RECRUITING

Prince of Wales Hospital

Sydney, New South Wales, Australia

Site Status RECRUITING

University of New South Wales

Sydney, New South Wales, Australia

Site Status RECRUITING

Royal Brisbane and Women's Hospital

Brisbane, Queensland, Australia

Site Status NOT_YET_RECRUITING

Royal Melbourne Hospital

Melbourne, Victoria, Australia

Site Status RECRUITING

Countries

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Australia

Central Contacts

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Danit Saks, MBMSc, MRes, PhD

Role: CONTACT

9348 1658 ext. +612

Facility Contacts

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Beata Bajorek, BPharm DipHospPharm PhD

Role: primary

4055 0650 ext. +612

Danit Saks, PhD

Role: primary

93481658 ext. +61 2

Danit Saks, PhD

Role: primary

93481658 ext. +61 2

Michael O'Sullivan, MD

Role: primary

3646 8111 ext. +617

Ashley Park, MD

Role: primary

9342 7000 ext. +613

Other Identifiers

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AusCADASIL

Identifier Type: -

Identifier Source: org_study_id

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