- ICH GCP
- Amerikanska kliniska prövningsregistret
- Klinisk prövning NCT07650110
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.
Studieöversikt
Status
Betingelser
Intervention / Behandling
Studietyp
Inskrivning (Beräknad)
Fas
- Inte tillämpbar
Kontakter och platser
Studiekontakt
- Namn: Hugues Chabriat, MD PhD
- Telefonnummer: +33 +33 1 49 95 25 93
- E-post: hugues.chabriat@aphp.fr
Studera Kontakt Backup
- Namn: Jérôme Lambert
- Telefonnummer: +33 +33 1 42 49 97 42
- E-post: jerome.lambert@u-paris.fr
Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
- Vuxen
- Äldre vuxen
Tar emot friska volontärer
Beskrivning
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
Studieplan
Hur är studien utformad?
Designdetaljer
- Primärt syfte: Övrig
- Tilldelning: Icke-randomiserad
- Interventionsmodell: Parallellt uppdrag
- Maskning: Ingen (Open Label)
Vapen och interventioner
Deltagargrupp / Arm |
Intervention / Behandling |
|---|---|
|
Övrig: MVCR patients
Patient with a confirmed diagnosis of rare cerebro-vacular disease
|
Additional blood collection
|
|
Övrig: Control group
Healthy controls / volunteers s with no cardiovascular or neurovascular disease
|
For healthy volunteers: neurological evaluation, blood and urine sampling
|
Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Comparative analysis of proteins
Tidsram: At inclusion
|
Comparative analysis of proteins and candidate biomarkers in serum or plasma between patients with a rare brain disorder and control subjects
|
At inclusion
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Measurement of proteins and biomarkers
Tidsram: Up to 5 years
|
Up to 5 years
|
|
|
Occurrence of a significant event indicating disease progression
Tidsram: Up to 5 years
|
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
Tidsram: Up to 5 years
|
Up to 5 years
|
|
|
Protein/biomarker assays according to the different conditions involved
Tidsram: Up to 5 years
|
Up to 5 years
|
|
|
Protein/biomarker assays according to sex and age
Tidsram: Up to 5 years
|
Up to 5 years
|
Samarbetspartners och utredare
Studieavstämningsdatum
Studera stora datum
Studiestart (Beräknad)
Primärt slutförande (Beräknad)
Avslutad studie (Beräknad)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Faktisk)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Nyckelord
Ytterligare relevanta MeSH-villkor
- Cavernous sinus syndrom
- Cerebrovaskulära störningar
- Hjärnsjukdomar
- Sjukdomar i centrala nervsystemet
- Sjukdomar i nervsystemet
- Kärlsjukdomar
- Hjärt-kärlsjukdomar
- Patologiska processer
- Neoplasmer
- Genetiska sjukdomar, medfödda
- Neoplasmer efter histologisk typ
- Hjärninfarkt
- Hjärnischemi
- Infarkt
- Nekros
- Hematologiska sjukdomar
- Demens
- Medfödda abnormiteter
- Kardiovaskulära avvikelser
- Hemostatiska störningar
- Hemorragiska störningar
- Neoplasmer, vaskulär vävnad
- Missbildningar i nervsystemet
- Ischemi
- Intrakraniella arteriella sjukdomar
- Stroke
- Cerebrala arteriella sjukdomar
- Vaskulära missbildningar
- Cerebral infarkt
- Cerebrala småkärlsjukdomar
- Demens, Vaskulär
- Hemangiom
- Medfödda, ärftliga och neonatala sjukdomar och abnormiteter
- Patologiska tillstånd, tecken och symtom
- Hemiska och lymfsjukdomar
- CADASIL
- Hemangiom, Cavernous
- Centrala nervsystemet Vaskulära missbildningar
Andra studie-ID-nummer
- APHP260095
Plan för individuella deltagardata (IPD)
Planerar du att dela individuella deltagardata (IPD)?
Läkemedels- och apparatinformation, studiedokument
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