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NCT Number: NCT07650110

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

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Key information

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Biocollection

Other

Additional blood collection

Neurological evaluation and Biocollection

Other

For healthy volunteers: neurological evaluation, blood and urine sampling

Primary outcomes

  1. Comparative analysis of proteins

    Time frame: At inclusion

    Comparative analysis of proteins and candidate biomarkers in serum or plasma between patients with a rare brain disorder and control subjects

Secondary outcomes

  1. Measurement of proteins and biomarkers

    Time frame: Up to 5 years

  2. Occurrence of a significant event indicating disease progression

    Time frame: Up to 5 years

    Stroke, cognitive decline, progressive markers in brain or retinal imaging

  3. Inter-method variability of assays assessed by measures of agreement between techniques

    Time frame: Up to 5 years

  4. Protein/biomarker assays according to the different conditions involved

    Time frame: Up to 5 years

  5. Protein/biomarker assays according to sex and age

    Time frame: Up to 5 years

Study contacts

Contact information is provided by the study sponsor or research team.

Hugues Chabriat, MD PhD

CONTACT

[email protected]

+33 1 49 95 25 93 ext. +33

Jérôme Lambert

CONTACT

[email protected]

+33 1 42 49 97 42 ext. +33

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

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

Acronym: B-MRVC2

Important dates

Study start
2026
Primary completion
2038
Study completion
2038
First posted
Jun 16, 2026
Registry last updated
Jun 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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