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

Collection Biologique de la Cohorte Des Maladies Rares Des Vaisseaux du Cerveau et de l'œil - 2

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.

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