Establishing an Australian cohort of CADASIL patients
AusCADASIL: An Australian Cohort of CADASIL
This study is trying to gather information from Australian patients with CADASIL to better understand how the condition affects them over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | The University of New South Wales Academic / other |
| Locations | 5 sites (Newcastle, New South Wales and 4 other locations) |
| Trial ID | NCT06148051 on ClinicalTrials.gov |
What this trial studies
This project aims to create an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The study will utilize clinical examinations, questionnaires, neuropsychological evaluations, brain MRI, blood sample analysis, and retinal imaging to characterize the clinical profile and progression of CADASIL. It is a multi-centre observational study conducted across six sites in New South Wales, Victoria, and Queensland, involving a multidisciplinary team dedicated to enhancing the understanding of this condition.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with a confirmed or suspected diagnosis of CADASIL or first-degree relatives of affected individuals.
Not a fit: Patients without a diagnosis of CADASIL or significant cognitive impairment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the clinical features and progression of CADASIL, potentially leading to improved management strategies for patients.
How similar studies have performed: Other studies have successfully established cohorts for CADASIL, but this specific Australian cohort is a novel initiative aimed at contributing to global understanding.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Newcastle, New South Wales and 4 other locations
- John Hunter Hospital — Newcastle, New South Wales, Australia (Recruiting)
- Prince of Wales Hospital — Sydney, New South Wales, Australia (Recruiting)
- University of New South Wales — Sydney, New South Wales, Australia (Recruiting)
- Royal Brisbane and Women's Hospital — Brisbane, Queensland, Australia (Not_yet_recruiting)
- Royal Melbourne Hospital — Melbourne, Victoria, Australia (Recruiting)
Study contacts
- Principal investigator: Perminder S Sachdev, MBBS, MD, PhD, FRANZCP, FAAHMS — University of New South Wales
- Study coordinator: Danit Saks, MBMSc, MRes, PhD
- Email: d.saks@unsw.edu.au
- Phone: 9348 1658
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.