hereditary vascular dementia
Conditions
Interventions
CADASIL
Disease progression
Surrogate markers
Vasculair reactivity
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: - participant in baseline 2000 study (P80/98) - Aged above 18 years - NOTCH3 mutation status known OR partner of a CADASIL patient
Exclusion criteria
Exclusion criteria: contra-indication for MRI scanning: - Claustrophobia - Pacemakers or defibrillators - Nerve stimulators - Intracranial clips - Intraorbital or intraocular metallic fragments - Cochlear implants - Ferromagnetic implants - Hydrocephalus pump - Intra-utrine device (not all types) - Permanent make-up - Tattoos above the shoulders (only those older than 20 years);Contra- indication for fMRI: - Seizure within prior year. - Non-correctable visual impairment.;Contra- indications for acetazolamide challenge: - Steven-Johnsons syndrome - Individuals from Japanese or Indian descent - Known allergy to sulphonamides - Known severe liver or renal insufficiency - Known occlusion of the a. vertebralis, basilaris or carotis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Differences in vascular reactivity between CADASIL patients and controls Correlation between vascular reactivity measurements and clinical severity (scores on neuropsychological and disability scales, age at first stroke) Correlation between vascular reactivity measurements and MRI parameters (number of lacunar infarcts, brain atrophy) | — |
Secondary
| Measure | Time frame |
|---|---|
| Correlation between changes in vascular reactivity over a 17-year timeframe and disease progression. Correlation between other candidate markers (skin NOTCH3 score, serum NOTCH3 levels) and disease progression. | — |
Countries
The Netherlands
Outcome results
None listed