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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/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
Neurological 0 0 0 0
Other neurological disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Cardiovascular 0 0 0 0
Diseases of the vasculature and circulation including the lymphatic system
Neurological 0 0 0 0
Dementias

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
Primary outcome [7] 0 0
Montreal Cognitive Assessment (MoCA)
Timepoint [7] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [8] 0 0
Category Fluency (animals)
Timepoint [8] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [9] 0 0
Digit Span Backwards (WAIS-IV)
Timepoint [9] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [10] 0 0
National Institute of Health Computerised Toolbox (NIHCTB)
Timepoint [10] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [11] 0 0
Letter Fluency (FAS)
Timepoint [11] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [12] 0 0
Rey Auditory Verbal Learning Test (RAVLT)
Timepoint [12] 0 0
Baseline, Year 1, Year 2, Year 3, Year 4
Primary outcome [13] 0 0
Brain MRI scan (total scan time 60 mins)- includes T1 weighted imaging
Timepoint [13] 0 0
Baseline, Year 3
Primary outcome [14] 0 0
Brain MRI scan (total scan time 60 mins)- includes T2-weighted fluid attenuated inversion recovery (FLAIR) imaging
Timepoint [14] 0 0
Baseline, Year 3
Primary outcome [15] 0 0
Brain MRI scan (total scan time 60 mins)- includes susceptibility-weighted MRI
Timepoint [15] 0 0
Baseline, Year 3
Primary outcome [16] 0 0
Brain MRI scan (total scan time 60 mins)- includes multi-shell diffusion weighted MRI
Timepoint [16] 0 0
Baseline, Year 3
Primary outcome [17] 0 0
Brain MRI scan (total scan time 60 mins)- includes pseudo-continuous arterial spin labelling (PCASL) perfusion imaging with multiple post-labelling delays.
Timepoint [17] 0 0
Baseline, Year 3
Primary outcome [18] 0 0
Brain MRI scan (total scan time 60 mins)- includes resting-state blood oxygenation level dependent (BOLD) imaging.
Timepoint [18] 0 0
Baseline, Year 3
Secondary outcome [1] 0 0
Blood biochemistry
Timepoint [1] 0 0
Baseline, Year 3
Secondary outcome [2] 0 0
Ocular Questionnaire
Timepoint [2] 0 0
Baseline, Year 3
Secondary outcome [3] 0 0
Genetic Profile
Timepoint [3] 0 0
Baseline
Secondary outcome [4] 0 0
Instrumental Activities of Daily Living Scale (IADL)
Timepoint [4] 0 0
Baseline
Secondary outcome [5] 0 0
Quality of Life Scale (EQ-5D-5L)
Timepoint [5] 0 0
Baseline
Secondary outcome [6] 0 0
STOP-BANG Sleep Questionnaire
Timepoint [6] 0 0
Baseline
Secondary outcome [7] 0 0
PROMIS Sleep Disturbance
Timepoint [7] 0 0
Baseline
Secondary outcome [8] 0 0
Apathy Evaluation Scale (AES)
Timepoint [8] 0 0
Baseline
Secondary outcome [9] 0 0
Multidimensional Fatigue Inventory (MFI)
Timepoint [9] 0 0
Baseline
Secondary outcome [10] 0 0
Patient Health Questionnaire-9 (PHQ-9)
Timepoint [10] 0 0
Baseline
Secondary outcome [11] 0 0
Hospital Anxiety and Depression Scale (HADS)
Timepoint [11] 0 0
Baseline
Secondary outcome [12] 0 0
Study Partner Apathy Evaluation Scale (AES)
Timepoint [12] 0 0
Baseline
Secondary outcome [13] 0 0
Study Partner Instrumental Activities of Daily Living Scale (IADL)
Timepoint [13] 0 0
Baseline
Secondary outcome [14] 0 0
Neuropsychiatric Inventory (NPI-Q)
Timepoint [14] 0 0
Baseline
Secondary outcome [15] 0 0
Blood Omic investigation
Timepoint [15] 0 0
Baseline and year 3
Secondary outcome [16] 0 0
Ocular Assessment-Visual Acuity
Timepoint [16] 0 0
Baseline and year 3
Secondary outcome [17] 0 0
Ocular Assessment- Contrast Sensitivity
Timepoint [17] 0 0
Baseline and year 3
Secondary outcome [18] 0 0
Ocular Assessment- Stereopsis
Timepoint [18] 0 0
Baseline and year 3
Secondary outcome [19] 0 0
Ocular Assessment- Slit-lamp examination
Timepoint [19] 0 0
Baseline and year 3
Secondary outcome [20] 0 0
Ocular Assessment- Standard automated perimetry
Timepoint [20] 0 0
Baseline and year 3
Secondary outcome [21] 0 0
Ocular Assessment- Intraocular pressure
Timepoint [21] 0 0
Baseline and year 3
Secondary outcome [22] 0 0
Ocular Assessment- Fundus imaging (requires pupil dilation using tropicamide 0.5 or 1.0% eye drops
Timepoint [22] 0 0
Baseline and year 3
Secondary outcome [23] 0 0
Ocular Assessment- Optical Coherence Tomography (OCT) and OCT-Angiography
Timepoint [23] 0 0
Baseline and year 3

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)
NSW,QLD,VIC
Recruitment hospital [1] 0 0
John Hunter Hospital - Newcastle
Recruitment hospital [2] 0 0
Prince of Wales Hospital - Sydney
Recruitment hospital [3] 0 0
University of New South Wales - Sydney
Recruitment hospital [4] 0 0
Royal Brisbane and Women's Hospital - Brisbane
Recruitment hospital [5] 0 0
Royal Melbourne Hospital - Melbourne
Recruitment postcode(s) [1] 0 0
2305 - Newcastle
Recruitment postcode(s) [2] 0 0
2031 - Sydney
Recruitment postcode(s) [3] 0 0
4006 - Brisbane
Recruitment postcode(s) [4] 0 0
3052 - Melbourne

Funding & Sponsors
Primary sponsor type
Other
Name
Perminder Sachdev
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Prince of Wales Hospital, Sydney
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
John Hunter Hospital
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
St Vincent's Hospital - Sydney, Australia
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
Royal Brisbane and Women's Hospital
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
Melbourne Health
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
The University of Queensland
Address [6] 0 0
Country [6] 0 0

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/ct2/show/NCT06148051
Trial related presentations / publications
Public notes

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
d.saks@unsw.edu.au
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT06148051