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Recruiting NCT06148051

AusCADASIL: An Australian Cohort of CADASIL

— Observational Cadasil

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Cadasil. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Australia
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Detailed description

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.

Primary outcome measures

  • Online Medical Questionnaire [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Weight and height will be combined to report BMI in kg/m^2 [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Blood Pressure [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Modified Rankin Scale (mRS) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • National Institute of Health Stroke Scale (NIHSS) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Alphabet required for Trail Making A/B [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Montreal Cognitive Assessment (MoCA) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Category Fluency (animals) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • Digit Span Backwards (WAIS-IV) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
  • National Institute of Health Computerised Toolbox (NIHCTB) [Time frame: Baseline, Year 1, Year 2, Year 3, Year 4]
Secondary outcome measures (12)
  • Blood biochemistry [Time frame: Baseline, Year 3]
  • Ocular Questionnaire [Time frame: Baseline, Year 3]
  • Genetic Profile [Time frame: Baseline]
  • Instrumental Activities of Daily Living Scale (IADL) [Time frame: Baseline]
  • Quality of Life Scale (EQ-5D-5L) [Time frame: Baseline]
  • STOP-BANG Sleep Questionnaire [Time frame: Baseline]
  • PROMIS Sleep Disturbance [Time frame: Baseline]
  • Apathy Evaluation Scale (AES) [Time frame: Baseline]
  • Multidimensional Fatigue Inventory (MFI) [Time frame: Baseline]
  • Patient Health Questionnaire-9 (PHQ-9) [Time frame: Baseline]
  • Hospital Anxiety and Depression Scale (HADS) [Time frame: Baseline]
  • Study Partner Apathy Evaluation Scale (AES) [Time frame: Baseline]

Eligibility criteria

Inclusion criteria

  • 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
  • Ability to attend a testing site
  • Ability to complete minimum dataset (medical examination and medical history questionnaire, blood test to determine genetic status and a short (20 minute) neuropsychology assessment).
  • CADASIL participants according to one of the following categories:
  • confirmed diagnosis via genetic testing (NOTCH3 pathogenic variant), OR
  • suspected diagnosis based on medical history and brain MRI, OR
  • 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)

Exclusion criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Case-control

Study locations

Australia · 5 centers
  • John Hunter Hospital — Newcastle
  • Prince of Wales Hospital — Sydney
  • University of New South Wales — Sydney
  • Royal Brisbane and Women's Hospital — Brisbane
  • Royal Melbourne Hospital — Melbourne

Identifiers

NCT: NCT06148051 · AusCADASIL

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗