NCT07650110 · NOT YET RECRUITING
Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
This is a French biobank study, not a treatment trial. Researchers are collecting blood samples and clinical data from people with rare inherited brain vessel diseases — like CADASIL, cavernoma, and related conditions — to build a research resource. The goal is to find biomarkers and better understand how these diseases progress. There is no Phase designation because no drug or device is being tested.
Eligibility criteria
Inclusion Criteria: For the group of patients with MVCR: * Patients aged between 18 and 80 years at the time of inclusion * Diagnosis confirmed by the detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL, or in another gene responsible for other forms of monogenic cSVD (such as the COL4A1, COL4A2 and HTRA1 genes) or a confirmed diagnosis of MOYA-MOYA (arteriography and/or genetic testing) or cavernoma, cerebral venous thrombosis or a cerebral vascular malformation, including cavernomas * Covered by social security or an equivalent scheme * Written consent. * Patient included in the MVCR cohort For control group * Subject aged between 18 and 80 at the time of inclusion. * Written consent. * Blood pressure \< 140/90 mmHg without treatment or \< 130/80 mmHg if treated and stable for ≥3 months * Covered by social security or a similar scheme * Strictly normal neurological examination (NIHSS=0; no focal deficit) * Normal cognitive examination: MMSE ≥ 26 Exclusion criteria : Common exclusion criteria for patients and control subjects: * A person referred to in Articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the Public Health Code, defined as: * Pregnant women, women in labour or breastfeeding women * Persons deprived of their liberty by judicial or administrative decision * Persons hospitalised without consent and not subject to a legal protection measure, and persons admitted to a health or social care facility for purposes other than research * Minors * Adults subject to a legal protection measure (guardianship, curatorship or judicial protection), adults unable to give consent and not subject to a legal protection measure * Individuals subject to a withdrawal period for another research study * Patients participating in another interventional research study * Acute or chronic infectious disease Specific exclusion criteria for control subjects * Any identified extra- or intracranial vascular pathology requiring specific management * Known cardiovascular disease (coronary artery disease, arterial disease, atrial fibrillation, heart failure) * Neurological history: stroke, TIA, intracranial haemorrhage, meningitis/encephalitis, head injury with loss of consciousness >30 mins, * Multiple sclerosis, neurodegenerative disease, active epilepsy, * Current or former smoking (more than 10 pack-years) * Diabetes * Antithrombotic or lipid-lowering treatment
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2026-06-16