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I-CAN Biocollection (I-CAN)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02712892
Recruitment Status : Completed
First Posted : March 18, 2016
Last Update Posted : September 9, 2021
Sponsor:
Collaborator:
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
Nantes University Hospital

Study Description
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Brief Summary:
Intracranial aneurysm (IA) is an asymptomatic cerebrovascular abnormality affecting 3.2% of the general population. The devastating complication of IA is its rupture, resulting in subarachnoid haemorrhage that can lead to severe disability and death. Unfortunately, there are neither reliable clues nor diagnostic tools to predict the formation and/or the fate of an IA in a given individual. Also, there is no pharmacological drug available to prevent the rupture of aneurysm and subsequent subarachnoid haemorrhage. Current treatments are invasive with a significant risk of procedural morbidity. Thus, still now, the management of patients with IA remains extremely challenging and still controversial. Although the pathogenesis of IA has been the subject of many studies for the last decade, the mechanisms underlying IA formation, growth and rupture are still mostly unknown and relevant animal models of IA are not available. Familial history of IA predisposes to IA formation and rupture and increasing evidence suggest a genetic component of IA formation, with heterogeneous modes of inheritance and penetrance. This project, gathering neuroradiologists, geneticists and vascular biologists, addresses the urgent need to understand the pathogenic mechanisms of IA to develop diagnostic and predictive tools of risk of IA. The investigators propose to identify IA-causing variants by whole-exome sequencing in familial forms of the disease. The investigators hypothesises that the functional analysis of the causal/susceptibility variants thus identified will provide clues to understanding the pathological mechanisms of IA formation, and the bases for developing diagnostic tools. This project aims at meeting this challenge. Based on preliminary data that already allowed to identify such a variant, and the combination of genetic and functional investigations, the specific objectives of this project are: - To identify IA-causing variants in familial forms of the disease by whole-exome sequencing; - To understand the function of these genes/variants in the formation and rupture of IA by molecular and cellular approaches and generation of relevant animal models; - To discover potential biomarkers of risk of IA formation and/or rupture.

Condition or disease Intervention/treatment
Intracranial Aneurysm Genetic: Non Interventional Study

Study Design
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Study Type : Observational
Actual Enrollment : 3078 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: IntraCranial ANeurysms: From Familial Forms to Pathophysiological Mechanisms
Actual Study Start Date : March 3, 2016
Actual Primary Completion Date : December 19, 2019
Actual Study Completion Date : December 31, 2020

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Presence or absence of genetic abnormalitie [ Time Frame: Until one year ]

    Identification of genetic abnormalities segregant with the presence of intracranial aneurysms in the informative families recruited. Sequencing of the whole exome in a cohort of patients carriers of familial forms of intracranial aneurysms.

    Analysis of blood level of the GAIA 1 protein in a large cohort of familial and sporadic carriers of intracranial aneurysms



Biospecimen Retention:   Samples With DNA

For one patient included:

  • 2 Ethylenediaminetetraacetic acid (EDTA) tubes for DNA (5mL)
  • 2 dry tubes for serum (5mL)

Eligibility Criteria
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Ages Eligible for Study:   20 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The initial stage of this biocollection based on the recruitment of large families for genetic linkage analysis. This is a first step to identify patients with intracranial aneurysms occurring in a family context, and to conduct a comprehensive investigation according to clinical guidelines in force to assess the potentially informative family and ensure their adherence to the prior biocollection. The next step is the fine and accurate phenotyping of each of the family members (imaging) and the collection of a blood sample for DNA extraction for molecular genetic analysis.

The population recruited will be composed of index and their healthy relatives and cases with sporadic cases and IA. The kinship links will be established from family trees.

Criteria

Inclusion criteria indexes and related cases (familial) of intracranial aneurysms:

  • Index: Any patient consulting for a major IA and some typical bifurcation with at least one other case reached akin IA 1st degree
  • Related: All similar to the first degree, aged 20 or more, patients with a family background of IA and some typical bifurcation (≥2 achieved) For the latter, directed by screening with Magnetic resonance imaging (MRI) sequence Time of Flight (TOF), axial T2, EGT2.
  • biocollection of Written Consent for participation in the collection of biological samples

Inclusion criteria sporadic cases of IA:

  • Any patient consulting for IA and some typical bifurcation
  • Patients aged 20 years or older
  • biocollection of Written Consent for participation in the collection of biological samples

Non Inclusion Criteria:

  • Patients who have shown the inability or refusal to sign the consent informed biocollection

  • syndromic diagnosis known as AIC provider

    • Marfan Syndrome
    • AOS with SMAD 3
    • Danlos Syndrome Elhers type II and IV
    • Autosomal Dominant Polycystic
    • Moyamoya Syndrome

  • character of IA:

    • Dissecting or fusiform
    • Combined with an arteriovenous malformation
    • Blister-like
    • mycotic

  • Pathology of the cerebral white matter detected on MRI suggestive:

    • Mutation COL4A1
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02712892


Locations
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Sponsors and Collaborators
Nantes University Hospital
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Hubert DESAL, Pr Nantes University Hospital
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02712892    
Other Study ID Numbers: RC15_0304
First Posted: March 18, 2016    Key Record Dates
Last Update Posted: September 9, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Intracranial Aneurysm
Aneurysm
Vascular Diseases
Cardiovascular Diseases
Intracranial Arterial Diseases
 Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases