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.

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. - RVCL-MRI study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON38389

Enrollment

Registered

2014-03-18

Start date

2014-10-10

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Retinal Vasculopathy with Cerebral leukodystrophy & migraine

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results