Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2 (B-MRVC2)

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.

Study Overview

• Status: Not yet recruiting
• Conditions: CADASIL; Cavernous Angioma; Small Vessel Disease; Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
• Intervention / Treatment: Other: Biocollection; Other: Neurological evaluation and Biocollection

• Study Type: Interventional
• Enrollment (Estimated): 600
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Hugues Chabriat, MD PhD; Phone Number: +33 +33 1 49 95 25 93; Email: hugues.chabriat@aphp.fr
• Study Contact Backup: Name: Jérôme Lambert; Phone Number: +33 +33 1 42 49 97 42; Email: jerome.lambert@u-paris.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: MVCR patients; Patient with a confirmed diagnosis of rare cerebro-vacular disease	Other: Biocollection; Additional blood collection
Other: Control group; Healthy controls / volunteers s with no cardiovascular or neurovascular disease	Other: Neurological evaluation and Biocollection; For healthy volunteers: neurological evaluation, blood and urine sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparative analysis of proteins	Comparative analysis of proteins and candidate biomarkers in serum or plasma between patients with a rare brain disorder and control subjects	At inclusion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measurement of proteins and biomarkers		Up to 5 years
Occurrence of a significant event indicating disease progression	Stroke, cognitive decline, progressive markers in brain or retinal imaging	Up to 5 years
Inter-method variability of assays assessed by measures of agreement between techniques		Up to 5 years
Protein/biomarker assays according to the different conditions involved		Up to 5 years
Protein/biomarker assays according to sex and age		Up to 5 years

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Estimated): June 30, 2026
• Primary Completion (Estimated): June 30, 2038
• Study Completion (Estimated): June 30, 2038

Study Registration Dates

• First Submitted: June 10, 2026
• First Submitted That Met QC Criteria: June 10, 2026
• First Posted (Actual): June 16, 2026

Study Record Updates

• Last Update Posted (Actual): June 16, 2026
• Last Update Submitted That Met QC Criteria: June 10, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Keywords: Central Nervous System; Cavernous Angioma; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; Brain Small Vessel Disease; Cadasil; Central Nervous System Vascular Malformations
• Additional Relevant MeSH Terms: Cavernous Sinus Syndromes; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Neoplasms; Genetic Diseases, Inborn; Neoplasms by Histologic Type; Brain Infarction; Brain Ischemia; Infarction; Necrosis; Hematologic Diseases; Dementia; Congenital Abnormalities; Cardiovascular Abnormalities; Hemostatic Disorders; Hemorrhagic Disorders; Neoplasms, Vascular Tissue; Nervous System Malformations; Ischemia; Intracranial Arterial Diseases; Stroke; Cerebral Arterial Diseases; Vascular Malformations; Cerebral Infarction; Cerebral Small Vessel Diseases; Dementia, Vascular; Hemangioma; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; CADASIL; Hemangioma, Cavernous; Central Nervous System Vascular Malformations
• Other Study ID Numbers: APHP260095

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No