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

NCT07650110 | Not Yet Recruiting

• 1 other identifier: APHP260095
• Study Type: interventional
• Target: 600
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

CADASIL; Cavernous Angioma; Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy; Small Vessel Disease

Keywords

Brain Small Vessel Disease; Cadasil; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; Central Nervous System Vascular Malformations; Cavernous Angioma; Central Nervous System

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• Measurement of proteins and biomarkers

  Up to 5 years

• Occurrence of a significant event indicating disease progression

  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

Study Arms (2)

MVCR patients

OTHER

Patient with a confirmed diagnosis of rare cerebro-vacular disease

Other: Biocollection

Control group

OTHER

Healthy controls / volunteers s with no cardiovascular or neurovascular disease

Other: Neurological evaluation and Biocollection

Interventions

Biocollection OTHER

Additional blood collection

MVCR patients

Neurological evaluation and Biocollection OTHER

For healthy volunteers: neurological evaluation, blood and urine sampling

Control group

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• For the group of patients with MVCR:
• 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
• 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:

• 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
• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

CADASIL; Hemangioma, Cavernous; Central Nervous System Vascular Malformations

Condition Hierarchy (Ancestors)

Cerebral Infarction; Brain Infarction; Brain Ischemia; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Dementia, Vascular; Cerebral Arterial Diseases; Intracranial Arterial Diseases; Stroke; Dementia; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infarction; Ischemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Necrosis; Hemangioma; Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Cavernous Sinus Syndromes; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Nervous System Malformations; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities

Central Study Contacts

Hugues Chabriat, MD PhD

CONTACT

+33 1 49 95 25 93; hugues.chabriat@aphp.fr

Jérôme Lambert

CONTACT

+33 1 42 49 97 42; jerome.lambert@u-paris.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: A single-centre, non-randomised prospective biobanking study, conducted as an ancillary component of the MVCR cohort study

Study Record Dates

• First Submitted: June 10, 2026
• First Posted: June 16, 2026
• Study Start: June 30, 2026
• Primary Completion (Estimated): June 30, 2038
• Study Completion (Estimated): June 30, 2038
• Last Updated: June 16, 2026

Record last verified: 2026-06