AusCADASIL: An Australian Cohort of CADASIL
ConditionCadasil
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorPerminder Sachdev
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Adults ≥18 years old
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
Disqualifiers
None
Trial population
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
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
300 Participants
are grouped into 2 trial groupsGroup A: CADASIL cohort
Group B: Control Cohort
Trial outcomes
Primary outcomes
1
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 42
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 43
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 44
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 4Secondary outcomes
1
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 32
Ocular Questionnaire
Includes questions regarding vision ability and ocular symptoms, and history
Time frame
Baseline, Year 33
Genetic Profile
Genetic testing for NOTCH3 variants as well as potentially modifying genes
Time frame
Baseline4
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
BaselineSponsors and contacts
Click on the lead sponsor to view all of their trials.
Perminder Sachdev
Lead sponsor
The University of New South Wales
Sponsor institution
Prince of Wales Hospital, Sydney
Collaborator
John Hunter Hospital
Collaborator
St Vincent's Hospital - Sydney, Australia
Collaborator
Royal Brisbane and Women's Hospital
Collaborator
Melbourne Health
Collaborator
The University of Queensland
Collaborator
Source ClinicalTrials.gov