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

Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-80
SponsorAssistance Publique - Hôpitaux de Paris

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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.

Disqualifiers

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

Trial design

Design model

Parallel

Treatments tested in this trial

  • Biocollection

    Other intervention

    Additional blood collection

  • Neurological evaluation and Biocollection

    Other intervention

    For healthy volunteers: neurological evaluation, blood and urine sampling

Treatment groups

600 Participants
are divided into 2 treatment groups
Group A: MVCR patientsOther 1 intervention
Group B: Control groupOther 1 intervention

Trial outcomes

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

Time frame
At inclusion

Secondary outcomes

1

Measurement of proteins and biomarkers

Time frame
Up to 5 years
2

Occurrence of a significant event indicating disease progression

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

Time frame
Up to 5 years
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

Other outcomes

Locations

This trial has no locations.

Sponsors and contacts

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