CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease
Conditions
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
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.
Interventions
OTHERBiocollection
Additional blood collection
OTHERNeurological evaluation and Biocollection
For healthy volunteers: neurological evaluation, blood and urine sampling
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Intervention model description
A single-centre, non-randomised prospective biobanking study, conducted as an ancillary component of the MVCR cohort study
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparative analysis of proteins | At inclusion | Comparative analysis of proteins and candidate biomarkers in serum or plasma between patients with a rare brain disorder and control subjects |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of proteins and biomarkers | Up to 5 years | — |
| Occurrence of a significant event indicating disease progression | Up to 5 years | Stroke, cognitive decline, progressive markers in brain or retinal imaging |
| 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 | — |
Contacts
CONTACTHugues Chabriat, MD PhD
CONTACTJérôme Lambert
Outcome results
None listed