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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06148051




Registration number
NCT06148051
Ethics application status
Date submitted
7/11/2023
Date registered
28/11/2023
Date last updated
8/05/2024

Titles & IDs
Public title
AusCADASIL: An Australian Cohort of CADASIL
Scientific title
AusCADASIL: An Australian Cohort of CADASIL
Secondary ID [1] 0 0
AusCADASIL
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Cadasil 0 0
Condition category
Condition code

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
CADASIL cohort -

Control Cohort -

Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Online Medical Questionnaire
Timepoint [1] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [2] 0 0
Weight and height will be combined to report BMI in kg/m^2
Timepoint [2] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [3] 0 0
Blood Pressure
Timepoint [3] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [4] 0 0
Modified Rankin Scale (mRS)
Timepoint [4] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [5] 0 0
National Institute of Health Stroke Scale (NIHSS)
Timepoint [5] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [6] 0 0
Alphabet required for Trail Making A/B
Timepoint [6] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4

Eligibility
Key inclusion 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)
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
Exclusion criteria:

1. Significant cognitive impairment leading to an inability to provide informed consent.

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
25/11/2023
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/03/2027
Actual
Sample size
Target
300
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)

Funding & Sponsors
Primary sponsor type
Other
Name
Perminder Sachdev
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
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.
Trial website
https://clinicaltrials.gov/study/NCT06148051
Trial related presentations / publications
Public notes
This record is viewable in the ANZCTR as it had previously listed Australia and/or New Zealand as a recruitment site, however these sites have since been removed

Contacts
Principal investigator
Name 0 0
Perminder S Sachdev, MBBS, MD, PhD, FRANZCP, FAAHMS
Address 0 0
University of New South Wales
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Danit Saks, MBMSc, MRes, PhD
Address 0 0
Country 0 0
Phone 0 0
9348 1658
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT06148051