The RVCL-ID study - Identifying biomarkers and disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), a monogenic vascular migraine model

The RVCL-ID study - Identifying biomarkers and disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), a monogenic vascular migraine model - RVCL-ID study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON40418

Enrollment

Registered

2014-07-16

Start date

2014-09-01

Completion date

Unknown

Last updated

2024-04-23

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: Patients: • Age: >=18 years • Diagnosed with: o RVCL with proven TREX1 mutation; and/or o Migraine with or without aura: Clinical diagnosis 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 participants: • 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.;Migraine patients and control subjects: • Presence of known (cerebro)vascular diseases: overt manifestations of hypertensive/atherosclerotic vascular disease, excessive anticoagulation (INR >3.0), CNS tumor, vascular malformation, vasculitis, blood dyscrasia, diabetes mellitus, severe clinical relevant carotid artery stenosis. ;Contraindications to lumbar puncture: • Any tumor • Compressio medullae • Signs and symptoms of increased intracranial pressure • Local infections of the skin • A coagulopathy including use of anti-coagulant drugs (INR >= 1.8) or thrombocytopenia (

Design outcomes

Primary

Measure	Time frame
1. The presence of disease specific clinical signs and symptoms of RVCL, including migraine, Raynaud*s phenomenon, retinopathy, neurological deficits and cognitive dysfunction, and other systemic manifestations. 2. The presence of disease specific abnormalities in routine laboratory tests in blood, CSF and urine, including liver- and kidney dysfunction, anemia, CSF pleocytosis, and (micro)albuminuria or proteinuria. 3. The expression of (auto)immune markers in blood and CSF and of endothelial markers in blood.	—

Measure

Time frame

1. The presence of disease specific clinical signs and symptoms of RVCL, including migraine, Raynaud*s phenomenon, retinopathy, neurological deficits and cognitive dysfunction, and other systemic manifestations. 2. The presence of disease specific abnormalities in routine laboratory tests in blood, CSF and urine, including liver- and kidney dysfunction, anemia, CSF pleocytosis, and (micro)albuminuria or proteinuria. 3. The expression of (auto)immune markers in blood and CSF and of endothelial markers in blood.

—

Secondary

Measure	Time frame
Not applicable.	—

Countries

Netherlands

Outcome results