Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2

Starting soon · Not applicable

Conditions studied: CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease

In brief

CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005. Since 2017, CERVCO has coordinated the MRVC cohort, a prospective cohort of patients with rare vascular diseases of the brain and retina, and established the associated B-MRVC biobank in 2020 to support translational research and biomarker discovery. Due to the rarity and heterogeneity of these disorders, centralized longitudinal collection of clinical data and biological samples is essential to improve understanding of disease mechanisms, identify biomarkers of progression and prognosis, and facilitate the development of new diagnostic and therapeutic approaches. The present study aims to expand this longitudinal biobank, enable national and international collaborative research through controlled sample sharing, and establish reference control samples to support biomarker validation.

Key facts

Study ID: NCT07650110
Run by: Assistance Publique - Hôpitaux de Paris
People needed: 600
Starts: 2026-06-30
Expected to finish: 2038-06-30
Last updated by the study team: 2026-06-16

Who can join

Age: 18 and older, up to 80. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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

You may not qualify if…

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

Full record on ClinicalTrials.gov

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