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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
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Scientific title
AusCADASIL: An Australian Cohort of CADASIL
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Secondary ID [1]
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AusCADASIL
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Universal Trial Number (UTN)
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Trial acronym
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Cadasil
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Condition category
Condition code
Neurological
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Other neurological disorders
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Cardiovascular
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Diseases of the vasculature and circulation including the lymphatic system
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Neurological
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Dementias
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
CADASIL cohort -
Control Cohort -
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Online Medical Questionnaire
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Assessment method [1]
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Includes questions on participant's medical history (CADASIL and other), family history, and medication use. Outcome will be used to inform clinical profile
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Timepoint [1]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [2]
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Weight and height will be combined to report BMI in kg/m^2
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Assessment method [2]
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Participants will undergo structured physical examination which will provide further details on their clinical profile.
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Timepoint [2]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [3]
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Blood Pressure
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Assessment method [3]
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Participants will undergo structured physical examination which will provide further details on their clinical profile. Systolic/diastolic blood pressure will be recorded 3 times during the physical examination
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Timepoint [3]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [4]
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Modified Rankin Scale (mRS)
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Assessment method [4]
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Participants will undergo structured physical examination which will provide further details on their clinical profile. Scale from 0-5 (0 no symptoms, 5 severe disability)
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Timepoint [4]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [5]
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National Institute of Health Stroke Scale (NIHSS)
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Assessment method [5]
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Participants will undergo structured physical examination which will provide further details on their clinical profile. Individual items (11) relating to stroke symptoms and disability, for each item 0 indicates normal.
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Timepoint [5]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [6]
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Alphabet required for Trail Making A/B
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Assessment method [6]
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As part of the neuropsychological battery, participants will need to complete the alphabet to inform ability to complete Trail Making tests A and B. These indicate executive function
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Timepoint [6]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [7]
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Montreal Cognitive Assessment (MoCA)
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Assessment method [7]
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As part of the neuropsychological battery, participants will complete the MoCA to provide a measure of global cognitive function
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Timepoint [7]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [8]
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Category Fluency (animals)
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Assessment method [8]
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As part of the neuropsychological battery, participants will complete Category Fluency to provide a measure of processing speed
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Timepoint [8]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [9]
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Digit Span Backwards (WAIS-IV)
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Assessment method [9]
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As part of the neuropsychological battery, participants will complete digit span backwards to provide a measure of executive function
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Timepoint [9]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [10]
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National Institute of Health Computerised Toolbox (NIHCTB)
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Assessment method [10]
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As part of the neuropsychological battery, participants will complete the NIHCTB to provide measures of global function
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Timepoint [10]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [11]
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Letter Fluency (FAS)
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Assessment method [11]
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As part of the neuropsychological battery, participants will complete the FAS to provide measures of executive function
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Timepoint [11]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [12]
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Rey Auditory Verbal Learning Test (RAVLT)
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Assessment method [12]
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As part of the neuropsychological battery, participants will complete the RAVLT to provide measures of learning and memory
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Timepoint [12]
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Baseline, Year 1, Year 2, Year 3, Year 4
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Primary outcome [13]
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Brain MRI scan (total scan time 60 mins)- includes T1 weighted imaging
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Assessment method [13]
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To assess brain morphology
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Timepoint [13]
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Baseline, Year 3
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Primary outcome [14]
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Brain MRI scan (total scan time 60 mins)- includes T2-weighted fluid attenuated inversion recovery (FLAIR) imaging
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Assessment method [14]
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Combined with T1 outcome to assess brain morphology
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Timepoint [14]
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Baseline, Year 3
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Primary outcome [15]
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Brain MRI scan (total scan time 60 mins)- includes susceptibility-weighted MRI
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Assessment method [15]
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Assesses cerebral microbleeds. Signal magnitude will be processed to estimate signal decay time (i.e., T2* maps), which reflect compartmentalisation of magnetised tissue constituents (iron, calcium) [22]. Signal phase will be processed for quantitative susceptibility mapping.
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Timepoint [15]
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Baseline, Year 3
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Primary outcome [16]
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Brain MRI scan (total scan time 60 mins)- includes multi-shell diffusion weighted MRI
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Assessment method [16]
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Measures of brain white matter microstructural integrity, such as fractional anisotropy and mean diffusivity, will be calculated using tensor models. Fixel-based analyses of fibre density and cross-section will also be performed. Markers of cerebrovascular diseases derived from diffusion data, such as Peak width of Skeletonised Mean Diffusivity (PSMD), will be calculated. Structural connectivity will also be examined.
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Timepoint [16]
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Baseline, Year 3
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Primary outcome [17]
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Brain MRI scan (total scan time 60 mins)- includes pseudo-continuous arterial spin labelling (PCASL) perfusion imaging with multiple post-labelling delays.
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Assessment method [17]
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Used to assess quantitative cerebral blood flow and arterial transit time.
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Timepoint [17]
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Baseline, Year 3
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Primary outcome [18]
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Brain MRI scan (total scan time 60 mins)- includes resting-state blood oxygenation level dependent (BOLD) imaging.
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Assessment method [18]
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Used to assess brain functional activity and amplitude of low-frequency fluctuations which embeds signal of cerebrovascular reactivity. For sites with available capnography monitors, participants' end-tidal carbon dioxide concentrations will be recorded during acquiring resting-state BOLD data for more accurate quantification of cerebrovascular reactivity
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Timepoint [18]
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Baseline, Year 3
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Secondary outcome [1]
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Blood biochemistry
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Assessment method [1]
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Analysed by local pathology lab to indicate clinical profile. Measures will include fasting glucose, HbA1c, lipids, C-reactive protein, creatinine, vit D and liver function tests.
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Timepoint [1]
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Baseline, Year 3
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Secondary outcome [2]
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Ocular Questionnaire
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Assessment method [2]
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Includes questions regarding vision ability and ocular symptoms, and history
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Timepoint [2]
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Baseline, Year 3
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Secondary outcome [3]
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Genetic Profile
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Assessment method [3]
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Genetic testing for NOTCH3 variants as well as potentially modifying genes
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Timepoint [3]
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Baseline
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Secondary outcome [4]
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Instrumental Activities of Daily Living Scale (IADL)
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Assessment method [4]
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Completed online, 8 items to assess daily living skills in older adults. Outcome will be used to inform clinical profile
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Timepoint [4]
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Baseline
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Secondary outcome [5]
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Quality of Life Scale (EQ-5D-5L)
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Assessment method [5]
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Completed online, 6 items to assess mobility, self-care, activities, pain/discomfort, anxiety/depression. Outcome will be used to inform clinical profile
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Timepoint [5]
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Baseline
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Secondary outcome [6]
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STOP-BANG Sleep Questionnaire
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Assessment method [6]
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Completed online, 8 items to assess Obstructive Sleep Apnoea risk. Outcome will be used to inform clinical profile
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Timepoint [6]
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Baseline
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Secondary outcome [7]
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PROMIS Sleep Disturbance
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Assessment method [7]
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Completed online, 8 items to assess sleep quality. Outcome will be used to inform clinical profile
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Timepoint [7]
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Baseline
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Secondary outcome [8]
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Apathy Evaluation Scale (AES)
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Assessment method [8]
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Completed online, 18 items to assess apathy by goal-directed behaviour, goal-related cognition, and goal-related emotional responses. Outcome will be used to inform clinical profile
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Timepoint [8]
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Baseline
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Secondary outcome [9]
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Multidimensional Fatigue Inventory (MFI)
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Assessment method [9]
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Completed online, 20 items to assess physical and mental fatigue and motivation. Outcome will be used to inform clinical profile
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Timepoint [9]
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Baseline
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Secondary outcome [10]
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Patient Health Questionnaire-9 (PHQ-9)
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Assessment method [10]
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Completed online, 9 items to assess depression symptoms and severity. Outcome will be used to inform clinical profile
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Timepoint [10]
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Baseline
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Secondary outcome [11]
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Hospital Anxiety and Depression Scale (HADS)
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Assessment method [11]
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Completed online, includes 14 items to assess non-physical symptoms of anxiety and depression. Outcome will be used to inform clinical profile
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Timepoint [11]
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Baseline
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Secondary outcome [12]
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Study Partner Apathy Evaluation Scale (AES)
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Assessment method [12]
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Completed online by nominated study partner (someone who knows the participant well e.g. spouse, carer, friend etc). Inform's participant's apathy by goal-directed behaviour, goal-related cognition, and goal-related emotional responses
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Timepoint [12]
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Baseline
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Secondary outcome [13]
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Study Partner Instrumental Activities of Daily Living Scale (IADL)
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Assessment method [13]
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Completed online by nominated study partner (someone who knows the participant well e.g. spouse, carer, friend etc). 8 items to assess daily living skills in older adults. Outcome will be used to inform participant's clinical profile
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Timepoint [13]
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Baseline
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Secondary outcome [14]
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Neuropsychiatric Inventory (NPI-Q)
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Assessment method [14]
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Completed online by nominated study partner (someone who knows the participant well e.g. spouse, carer, friend etc). 12 domains, approx. 100 questions. Used to inform psychopathology in participants
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Timepoint [14]
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Baseline
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Secondary outcome [15]
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Blood Omic investigation
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Assessment method [15]
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Blood tubes will be transported to the University of New South Wales for genomics, proteomics, lipidomics, and epigenomics analysis
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Timepoint [15]
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Baseline and year 3
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Secondary outcome [16]
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Ocular Assessment-Visual Acuity
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Assessment method [16]
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a measure of the vision function using high contrast letters will be performed with standardised vision charts at distance and at near.
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Timepoint [16]
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Baseline and year 3
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Secondary outcome [17]
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Ocular Assessment- Contrast Sensitivity
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Assessment method [17]
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A measure of vision function, relating to the ability to distinguish between an object and the background behind it.
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Timepoint [17]
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Baseline and year 3
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Secondary outcome [18]
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Ocular Assessment- Stereopsis
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Assessment method [18]
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The perception of depth will be measured using a stereo acuity instrument by viewing a series of stereograms.
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Timepoint [18]
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Baseline and year 3
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Secondary outcome [19]
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Ocular Assessment- Slit-lamp examination
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Assessment method [19]
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Involves viewing of the ocular structures using a slit-lamp illumination system and biomicroscope viewing system. The slit-lamp examination will be conducted by a trained observer and will allow identification of ocular media opacities, abnormalities of the eye lids, tear film and anterior structures.
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Timepoint [19]
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Baseline and year 3
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Secondary outcome [20]
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Ocular Assessment- Standard automated perimetry
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Assessment method [20]
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A measure of the sensitivity of the visual field.
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Timepoint [20]
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Baseline and year 3
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Secondary outcome [21]
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Ocular Assessment- Intraocular pressure
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Assessment method [21]
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A measure of the pressure within the eye.
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Timepoint [21]
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Baseline and year 3
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Secondary outcome [22]
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Ocular Assessment- Fundus imaging (requires pupil dilation using tropicamide 0.5 or 1.0% eye drops
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Assessment method [22]
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Used to visualise the back of the eye
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Timepoint [22]
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Baseline and year 3
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Secondary outcome [23]
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Ocular Assessment- Optical Coherence Tomography (OCT) and OCT-Angiography
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Assessment method [23]
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Used to visualise the back of the eye in retinal layers, and the retinal vessels
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Timepoint [23]
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Baseline and year 3
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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)
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Minimum age
18
Years
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
Yes
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Key exclusion criteria
Exclusion criteria:
1. Significant cognitive impairment leading to an inability to provide informed consent.
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
25/11/2023
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
31/03/2027
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Actual
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Sample size
Target
300
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
NSW,QLD,VIC
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Recruitment hospital [1]
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John Hunter Hospital - Newcastle
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Recruitment hospital [2]
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Prince of Wales Hospital - Sydney
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Recruitment hospital [3]
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University of New South Wales - Sydney
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Recruitment hospital [4]
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Royal Brisbane and Women's Hospital - Brisbane
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Recruitment hospital [5]
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Royal Melbourne Hospital - Melbourne
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Recruitment postcode(s) [1]
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2305 - Newcastle
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Recruitment postcode(s) [2]
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2031 - Sydney
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Recruitment postcode(s) [3]
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4006 - Brisbane
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Recruitment postcode(s) [4]
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3052 - Melbourne
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Funding & Sponsors
Primary sponsor type
Other
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Name
Perminder Sachdev
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Address
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Country
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Other collaborator category [1]
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Other
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Name [1]
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Prince of Wales Hospital, Sydney
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Address [1]
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Country [1]
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Other collaborator category [2]
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Other
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Name [2]
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John Hunter Hospital
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Address [2]
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Country [2]
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Other collaborator category [3]
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Other
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Name [3]
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St Vincent's Hospital - Sydney, Australia
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Address [3]
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Country [3]
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Other collaborator category [4]
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Other
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Name [4]
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Royal Brisbane and Women's Hospital
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Address [4]
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Country [4]
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Other collaborator category [5]
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Other
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Name [5]
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Melbourne Health
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Address [5]
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Country [5]
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Other collaborator category [6]
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Other
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Name [6]
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The University of Queensland
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Address [6]
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Country [6]
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Ethics approval
Ethics application status
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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.
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Trial website
https://clinicaltrials.gov/ct2/show/NCT06148051
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Perminder S Sachdev, MBBS, MD, PhD, FRANZCP, FAAHMS
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Address
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University of New South Wales
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Danit Saks, MBMSc, MRes, PhD
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Address
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Country
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Phone
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9348 1658
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT06148051
Download to PDF