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Vascular reactivity as a surrogate marker in CADASI

Completed
Conditions
hereditary vascular dementia
10007963
10047066
Registration Number
NL-OMON45639
Lead Sponsor
eids Universitair Medisch Centrum
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Completed
Sex
Not specified
Target Recruitment
46
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

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

Study & Design

Study Type
Observational invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<p>Differences in vascular reactivity between CADASIL patients and controls<br /><br>Correlation between vascular reactivity measurements and clinical severity<br /><br>(scores on neuropsychological and disability scales, age at first stroke)<br /><br>Correlation between vascular reactivity measurements and MRI parameters (number<br /><br>of lacunar infarcts, brain atrophy)</p><br>
Secondary Outcome Measures
NameTimeMethod
<p>Correlation between changes in vascular reactivity over a 17-year timeframe and<br /><br>disease progression. Correlation between other candidate markers (skin NOTCH3<br /><br>score, serum NOTCH3 levels) and disease progression.</p><br>
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