An observational study in Cadasil, sponsored by Perminder Sachdev. Recruiting at 5 sites in Australia. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-05-08.
Sponsored by Perminder Sachdev · Observational
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.
Using clinical examination, questionnaires, neuropsychological evaluation, brain MRI, blood sample evaluation and retinal imaging, we aim to characterise the clinical profile and progression of CADASIL in an Australian cohort.
This is multi-centre observational cohort study currently based at six sites (clinics, hospitals and universities) across three states in Australia (New South Wales, Victoria and Queensland). The multidisciplinary team aims to be the first to develop an Australian cohort of CADASIL which will contribute to global efforts and understanding of the disease.
33 studies on the registry are indexed under CADASIL; 18 are open to participants now.
This study's planned enrollment of 300 is above the median of 168 across 22 observational studies indexed under CADASIL.
Browse CADASIL studies →This is the only study on the registry with Perminder Sachdev as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Individuals with CADASIL confirmed by genetic testing, suspected due to clinical symptoms, or family history of CADASIL.
Control cohort will be negative for the NOTCH3 pathogenic variant and have no cognitive complaints
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Ability to provide written
CADASIL participants according to one of the following categories:
OR 6. Unrelated individual who is negative for the NOTCH3 pathogenic variant, and has no cognitive complaints (i.e. control participant)
Exclusion criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Online Medical Questionnaire
Includes questions on participant's medical history (CADASIL and other), family history, and medication use. Outcome will be used to inform clinical profile
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Weight and height will be combined to report BMI in kg/m^2
Participants will undergo structured physical examination which will provide further details on their clinical profile.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Blood Pressure
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
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Modified Rankin Scale (mRS)
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)
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
National Institute of Health Stroke Scale (NIHSS)
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.
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Alphabet required for Trail Making A/B
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
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Montreal Cognitive Assessment (MoCA)
As part of the neuropsychological battery, participants will complete the MoCA to provide a measure of global cognitive function
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Category Fluency (animals)
As part of the neuropsychological battery, participants will complete Category Fluency to provide a measure of processing speed
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Digit Span Backwards (WAIS-IV)
As part of the neuropsychological battery, participants will complete digit span backwards to provide a measure of executive function
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
National Institute of Health Computerised Toolbox (NIHCTB)
As part of the neuropsychological battery, participants will complete the NIHCTB to provide measures of global function
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Letter Fluency (FAS)
As part of the neuropsychological battery, participants will complete the FAS to provide measures of executive function
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Rey Auditory Verbal Learning Test (RAVLT)
As part of the neuropsychological battery, participants will complete the RAVLT to provide measures of learning and memory
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Brain MRI scan (total scan time 60 mins)- includes T1 weighted imaging
To assess brain morphology
Time frame: Baseline, Year 3
Brain MRI scan (total scan time 60 mins)- includes T2-weighted fluid attenuated inversion recovery (FLAIR) imaging
Combined with T1 outcome to assess brain morphology
Time frame: Baseline, Year 3
Brain MRI scan (total scan time 60 mins)- includes susceptibility-weighted MRI
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.
Time frame: Baseline, Year 3
Brain MRI scan (total scan time 60 mins)- includes multi-shell diffusion weighted MRI
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.
Time frame: Baseline, Year 3
Brain MRI scan (total scan time 60 mins)- includes pseudo-continuous arterial spin labelling (PCASL) perfusion imaging with multiple post-labelling delays.
Used to assess quantitative cerebral blood flow and arterial transit time.
Time frame: Baseline, Year 3
Brain MRI scan (total scan time 60 mins)- includes resting-state blood oxygenation level dependent (BOLD) imaging.
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
Time frame: Baseline, Year 3
Blood biochemistry
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.
Time frame: Baseline, Year 3
Ocular Questionnaire
Includes questions regarding vision ability and ocular symptoms, and history
Time frame: Baseline, Year 3
Genetic Profile
Genetic testing for NOTCH3 variants as well as potentially modifying genes
Time frame: Baseline
Instrumental Activities of Daily Living Scale (IADL)
Completed online, 8 items to assess daily living skills in older adults. Outcome will be used to inform clinical profile
Time frame: Baseline
Quality of Life Scale (EQ-5D-5L)
Completed online, 6 items to assess mobility, self-care, activities, pain/discomfort, anxiety/depression. Outcome will be used to inform clinical profile
Time frame: Baseline
STOP-BANG Sleep Questionnaire
Completed online, 8 items to assess Obstructive Sleep Apnoea risk. Outcome will be used to inform clinical profile
Time frame: Baseline
PROMIS Sleep Disturbance
Completed online, 8 items to assess sleep quality. Outcome will be used to inform clinical profile
Time frame: Baseline
Apathy Evaluation Scale (AES)
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
Time frame: Baseline
Multidimensional Fatigue Inventory (MFI)
Completed online, 20 items to assess physical and mental fatigue and motivation. Outcome will be used to inform clinical profile
Time frame: Baseline
Patient Health Questionnaire-9 (PHQ-9)
Completed online, 9 items to assess depression symptoms and severity. Outcome will be used to inform clinical profile
Time frame: Baseline
Hospital Anxiety and Depression Scale (HADS)
Completed online, includes 14 items to assess non-physical symptoms of anxiety and depression. Outcome will be used to inform clinical profile
Time frame: Baseline
Study Partner Apathy Evaluation Scale (AES)
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
Time frame: Baseline
Study Partner Instrumental Activities of Daily Living Scale (IADL)
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
Time frame: Baseline
Neuropsychiatric Inventory (NPI-Q)
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
Time frame: Baseline
Blood Omic investigation
Blood tubes will be transported to the University of New South Wales for genomics, proteomics, lipidomics, and epigenomics analysis
Time frame: Baseline and year 3
Ocular Assessment-Visual Acuity
a measure of the vision function using high contrast letters will be performed with standardised vision charts at distance and at near.
Time frame: Baseline and year 3
Ocular Assessment- Contrast Sensitivity
A measure of vision function, relating to the ability to distinguish between an object and the background behind it.
Time frame: Baseline and year 3
Ocular Assessment- Stereopsis
The perception of depth will be measured using a stereo acuity instrument by viewing a series of stereograms.
Time frame: Baseline and year 3
Ocular Assessment- Slit-lamp examination
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.
Time frame: Baseline and year 3
Ocular Assessment- Standard automated perimetry
A measure of the sensitivity of the visual field.
Time frame: Baseline and year 3
Ocular Assessment- Intraocular pressure
A measure of the pressure within the eye.
Time frame: Baseline and year 3
Ocular Assessment- Fundus imaging (requires pupil dilation using tropicamide 0.5 or 1.0% eye drops
Used to visualise the back of the eye
Time frame: Baseline and year 3
Ocular Assessment- Optical Coherence Tomography (OCT) and OCT-Angiography
Used to visualise the back of the eye in retinal layers, and the retinal vessels
Time frame: Baseline and year 3
Plan to share: Undecided
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