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Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2 (B-MRVC2)

2026年6月10日 更新者:Assistance Publique - Hôpitaux de Paris

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.

研究概览

研究类型

介入性

注册 (估计的)

600

阶段

  • 不适用

联系人和位置

本节提供了进行研究的人员的详细联系信息,以及有关进行该研究的地点的信息。

学习联系方式

研究联系人备份

参与标准

研究人员寻找符合特定描述的人,称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 成人
  • 年长者

接受健康志愿者

是的

描述

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

学习计划

本节提供研究计划的详细信息,包括研究的设计方式和研究的衡量标准。

研究是如何设计的?

设计细节

  • 主要用途:其他
  • 分配:非随机化
  • 介入模型:并行分配
  • 屏蔽:无(打开标签)

武器和干预

参与者组/臂
干预/治疗
其他:MVCR patients
Patient with a confirmed diagnosis of rare cerebro-vacular disease
Additional blood collection
其他:Control group
Healthy controls / volunteers s with no cardiovascular or neurovascular disease
For healthy volunteers: neurological evaluation, blood and urine sampling

研究衡量的是什么?

主要结果指标

结果测量
措施说明
大体时间
Comparative analysis of proteins
大体时间: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

次要结果测量

结果测量
措施说明
大体时间
Measurement of proteins and biomarkers
大体时间:Up to 5 years
Up to 5 years
Occurrence of a significant event indicating disease progression
大体时间: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
大体时间:Up to 5 years
Up to 5 years
Protein/biomarker assays according to the different conditions involved
大体时间:Up to 5 years
Up to 5 years
Protein/biomarker assays according to sex and age
大体时间:Up to 5 years
Up to 5 years

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查,以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (估计的)

2026年6月30日

初级完成 (估计的)

2038年6月30日

研究完成 (估计的)

2038年6月30日

研究注册日期

首次提交

2026年6月10日

首先提交符合 QC 标准的

2026年6月10日

首次发布 (实际的)

2026年6月16日

研究记录更新

最后更新发布 (实际的)

2026年6月16日

上次提交的符合 QC 标准的更新

2026年6月10日

最后验证

2026年6月1日

更多信息

此信息直接从 clinicaltrials.gov 网站检索,没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求,请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改,我们的网站上也会自动更新.

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