The RVCL-MRI study: neuroimaging findings and cerebrovascular reactivity in preclinical and clinical disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), in migraine patients and healthy controls.

Completed

Conditions: Retinal Vasculopathy with Cerebral leukodystrophy & migraine
10029299
10019231
10047066

Registration Number: NL-OMON38389

Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 90

Inclusion Criteria

Patient group (RVCL and migraine):
- age >=18 years
- Diagnosed with :
i) RVCL with proven TREX1 mutation; AND/OR
ii) migraine with or without aura according to the criteria of the International Headache Society (IHS)
- ability and willingness to provide written informed consent;control subjects:
-age >=18 years
- Not genetically related to an RVCL patient OR genetic testing has ruled out TREX1 mutations
- no (history) of migraine attacks
- age and sex matched with the patients
- Ability and willingness to provide written informed consent

Exclusion Criteria

All subjects:
- Subjects who do not want to be informed about unexpected findings that are considered serious, with prognostic or therapeutic consequences. This does not concern genetic test results.
- History of severe kidney dysfunction
- Previous allergic-like reaction to gadolinium-containing contrast agents
- Contraindications to MR Imaging (such as presence of metal objects in/on the body that cannot be removed);Migraine patients and control subjects:
- Presence of known (cerebro) vascular diseases such as overt manifestations of hypertensive/ atherosclerotic vascular disease, excessive anticoagulation (INR >3.0), CNS disorders, vasculitis, blood dyscrasia, diabetes mellitus, severe clinical relevant carotid artery stenosis. ;Specific exclusion criteria for participants in the cerebrovascular reactivity measurements:
- Severe asthma
- COPD
- Seizures within the previous year

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1. The prevalence and distribution of disease specific structural and<br /><br>functional MRI abnormalities, including (i) brain (non-)lacunar infarcts, (ii)<br /><br>white matter hyperintensities (deep and periventricular), (iii) widened<br /><br>perivascular spaces, (iv) microbleeds, (v) cerebral pseudotumor mass lesions,<br /><br>(vi) permeability of the blood brain barrier, (vii) white matter connectivity,<br /><br>(viii) brain activity in rest.<br /><br><br /><br>2. Cerebrovascular reactivity after inducing hypercapnia as a measure of<br /><br>endothelial function</p><br>

Secondary Outcome Measures