Actively Recruiting

Age: 18Years +
All Genders
Healthy Volunteers
ID06148051

AusCADASIL: An Australian Cohort of CADASIL to Study Clinical Features and Progression

Led by Perminder Sachdev · Updated on 2024-05-08

300

Participants Needed

5

Research Sites

N/A

Total Duration

On this page

Sponsors

P

Perminder Sachdev

Lead Sponsor

P

Prince of Wales Hospital, Sydney

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are establishing an Australian group of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The study aims to understand the clinical features and how CADASIL progresses over time. It focuses on examining neuropsychological profiles, brain imaging, genetics, blood markers, and retinal imaging to gather comprehensive information about this condition. This observational study is conducted at multiple centers across Australia, including clinics, hospitals, and universities. Participants undergo clinical exams, questionnaires, neuropsychological tests, brain MRI scans, blood sample collection, and retinal imaging. The study includes both individuals with CADASIL and control participants without the genetic variant or cognitive complaints. Participants will complete assessments at the start and annually over four years, including medical questionnaires, cognitive tests, brain scans, blood tests, and eye exams. These evaluations measure cognitive function, physical health, brain changes, and quality of life. Researchers will monitor participants’ progress over time to better understand CADASIL and its impact.

CONDITIONS

Brief Title

AusCADASIL: An Australian Cohort of CADASIL

Who Can Participate

Age: 18Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults 18 years or older
  • Ability to provide written informed consent, with support options available for visual or cognitive impairments
  • Ability to attend a testing site for assessments
  • Ability to complete medical examination, history questionnaire, blood test for genetic status, and a short neuropsychology assessment
  • Diagnosed with CADASIL confirmed by genetic testing, suspected by medical history and MRI, or first-degree relative of someone with confirmed CADASIL
  • Control participants must be unrelated individuals negative for the CADASIL genetic variant and without cognitive complaints
Not Eligible

You will not qualify if you...

  • Significant cognitive impairment that prevents providing informed consent

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - Baseline assessments

Participants undergo clinical examinations, questionnaires, neuropsychological evaluations, blood sampling, retinal imaging, and brain MRI scans to characterize clinical features of CADASIL.

1 baseline visit (in-person)

Long-term Monitoring

Duration - Up to 4 years

Participants complete annual online questionnaires and clinical assessments to monitor disease progression over several years.

Annual visits at Year 1, Year 2, Year 3, and Year 4 (in-person or online depending on assessment)

Trial Site Locations

Total: 5 locations

1

John Hunter Hospital

Newcastle, New South Wales, Australia, 2305

Actively Recruiting

2

Prince of Wales Hospital

Sydney, New South Wales, Australia, 2031

Actively Recruiting

3

University of New South Wales

Sydney, New South Wales, Australia, 2031

Actively Recruiting

4

Royal Brisbane and Women's Hospital

Brisbane, Queensland, Australia, 4006

Not Yet Recruiting

5

Royal Melbourne Hospital

Melbourne, Victoria, Australia, 3052

Actively Recruiting

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Research Team

D

Danit Saks, MBMSc, MRes, PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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