Establishing an Australian cohort of CADASIL patients
Official title: AusCADASIL: An Australian Cohort of CADASIL
Run by The University of New South Wales · NCT06148051 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | The University of New South Wales Academic / other |
| Locations | 5 sites (Newcastle, New South Wales and 4 other locations) |
| Status | Recruiting |
| Started | November 25, 2023 |
| Main results expected | March 31, 2027 |
| Study ends | March 31, 2027 |
| Registry record updated | May 8, 2024 |
| Trial ID | NCT06148051 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients without a diagnosis of CADASIL or significant cognitive impairment may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies have successfully established cohorts for CADASIL, but this specific Australian cohort is a novel initiative aimed at contributing to global understanding.
Who can join: the full rules
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 it's running
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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 Melbourne Hospital
Melbourne, Victoria, Australia Recruiting -
Royal Brisbane and Women's Hospital
Brisbane, Queensland, Australia Not yet 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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Long-term follow-up of Korean CADASIL patients
This 10-year project will track symptoms, brain scans, cognitive tests, and genetic data in about 500 Korean adults with CADASIL to see how the disease progresses.
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Analyzing genetic and imaging features in CADASIL patients
This study is trying to see how genetic and brain imaging information can help doctors better understand and treat CADASIL in patients with specific genetic markers.
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Understanding the prognosis of cerebral small vessel disease
This study looks at how different types of cerebral small vessel disease affect the health and future outcomes of patients, including issues like bleeding in the brain and memory problems.
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Understanding CADASIL and its effects on cognitive impairment
This study is trying to understand how CADASIL affects thinking and memory over time in people with a family history of the condition.
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Investigating genetic and non-genetic factors in small vessel disease
This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.
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Registry for CADASIL patients and their relatives
This study is trying to learn more about CADASIL and how it affects patients and their families to improve care and understanding of the condition.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.