RVCL-S, retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations RVCL-S, retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations
Conditions
Interventions
No intervention,  
functional Ultrasound Localization Microscopy (fULM) with Mircobubble (MB) infusion. 
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: (Pre-)symptomatic mutation carriers:- Age: > 18 years - Proven TREX1 mutation - Ability and willingness to provide written informed consent Control subjects: - Age: >18 years - Not genetically related to an RVCL-S patient or genetic testing has ruled out TREX1 mutations (can be done in a blinded way for 50% risk individua) - Ability and willingness to provide written informed consent
Exclusion criteria
Exclusion criteria: For all subjects:Subjects who do not want to be informed about unexpected findings that are considered serieus, with prognostic or therapeutic consequences. This does not concern genetic test results.pregnancy or brestfeedingintracranial surgery, angiographic intervention or radiation therapy of the brain.Contra-indications for fULM or contrast-agent SonoVue as determined by the safety committee. For Controls:Presence of known (cerebro) vascular diseases such as overt manifestations of hypertensive/ atherosclerotic vascular disease, excessive anticoagulation (INR >3.0), CNS disorders, vascular malformation, vasculitis, blood dyscrasia, diabetes mellitus, severe clinical relevant carotid artery stenosis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Blood flow velocity, vessel diameter, vessel density and tortuosity in RVCL-S mutation carriers, compared to healthy controls. | — |
Secondary
| Measure | Time frame |
|---|---|
| To identify biomarkers for disease severity and progression by comparing the fULM results between pre-symptomatic and symptomatic mutation carriers and if available, by comparing the fULM results to brain MRI scans and blood-based biomarkers, collected for clinical care and/or for the ongoing FORT study (P21.084), and/or LUMC Biobank RVCL collection (BB24.032) | — |
Countries
Netherlands
Contacts
Public ContactE Eijk
Leids Universitair Medisch Centrum
Outcome results
None listed