Genetic Profile In Patients With Ruptured and Unruptured Intracranial Aneurysms (ANEUBIO)

February 9, 2026 updated by: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Genetic Profile in Patients With Ruptured and Unruptured Intracranial Aneurysms: Observational Study Aimed at Identifying Genetic Variants Associated With the Risk of Intracranial Aneurysm Rupture

The project will involve multiple units within our Institute (Neurosurgery, Cerebrovascular Diseases, Neurology IV), as well as additional neurosurgical centers across Italy, for the enrollment of patients with saccular intracranial aneurysms (sIA), both ruptured and unruptured. Based on predefined inclusion and exclusion criteria, the recruitment target over a two-year period is 400 patients with sIA (200 ruptured, 200 unruptured) and 200 healthy controls. The study will not alter clinical practice: treatment decisions for unruptured sIA will be made independently by vascular teams according to routine standards.

For each enrolled subject, anonymized clinical data will be collected (age, sex, BMI, lifestyle habits, family history, comorbidities, aneurysmal parameters) to build an integrated database within the Biorepository. Peripheral blood samples will be obtained for genomic analyses, and when available (e.g., during clipping procedures or lumbar puncture), aneurysm wall tissue and/or cerebrospinal fluid (CSF) samples will be collected for expression studies. All materials and data (clinical/genetic) will be coded and stored at the Cryobank of the Fondazione IRCCS Istituto Neurologico Besta.

Genomic analyses: a pathway-based Genome-Wide Association Study (GWAS) is planned.

Phase I: Genotyping of 200 patients (100 with ruptured sIA, 100 with unruptured sIA) and 100 healthy controls, with combined analysis of genetic data and environmental factors related to rupture risk.

Phase II: Validation in an additional cohort of 200 patients (100 ruptured, 100 unruptured) and 100 controls to confirm the associations of identified SNPs.

Study Overview

Status

Recruiting

Conditions

Detailed Description

This observational study aims to identify potential genetic determinants associated with the risk of rupture in saccular intracranial aneurysms (sIA). The study is conducted in collaboration with three Units of the Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan (Neurosurgery Unit II, Cerebrovascular Diseases Unit, Neurology Unit IV), as well as additional neurosurgical centers across Italy, particularly for the enrollment of patients with ruptured sIA who do not present to Besta due to the absence of an Emergency Department.

As an observational study, it does not involve any modification to the routine clinical management of patients with sIA at participating centers. Specifically, the decision to propose surgical or endovascular treatment for patients with ruptured or unruptured aneurysms will be made independently of the study, based on shared criteria discussed during regular multidisciplinary vascular meetings. Furthermore, no additional follow-up is planned beyond what is routinely scheduled for patients undergoing surgical or endovascular treatment for intracranial aneurysms.

Each patient will be asked to provide informed consent through a dedicated form. Once consent is obtained, each participant will be assigned a unique alphanumeric central code, used exclusively for study purposes. Throughout the duration of the project and thereafter, only the responsible physician will be able to link the code to the patient's identity.

Patients will undergo clinical evaluation at the time of enrollment, as part of standard clinical practice. Anonymized clinical data will be recorded in a centralized database and will include: sex, age, height, weight, regular use of illicit substances, alcohol consumption, smoking habits, family history of sIA, arterial hypertension, medical history with particular attention to autoimmune diseases and recent infections, general and neurological assessment, and aneurysmal characteristics (location, maximum diameter, morphology-regular or irregular).

Each patient will also undergo peripheral venous blood sampling for genomic studies. When available (e.g., during clipping procedures or lumbar puncture performed for decompression or other clinical indications), samples of aneurysm wall tissue, subcutaneous arterial wall, and/or cerebrospinal fluid (CSF) will be collected. Biological samples, along with coded clinical and genetic data, will be stored at the Fondazione IRCCS Istituto Neurologico Carlo Besta in separate containers, housed in controlled and locked environments, to establish the first Integrated Italian Biobank for Intracranial Aneurysms.

Regarding genomic analyses, a pathway-based genome-wide association study (GWAS) will be conducted.

  • Phase I: DNA extracted and genotyped from 200 patients (100 with ruptured sIA and 100 with unruptured sIA) and 100 healthy controls will be analyzed. Statistical analysis will assess the combined effect of genetic and environmental factors on rupture risk. In this phase, healthy subjects and patients with unruptured sIA will serve as control groups for patients with ruptured sIA.
  • Phase II: An additional cohort of 200 patients (100 ruptured, 100 unruptured) and 100 healthy controls will be analyzed to validate the single nucleotide polymorphism (SNP) combinations identified in the preliminary phase.

Finally, the genetic and clinical data obtained from the biostatistical analysis of the entire cohort (400 patients and 200 healthy controls) will be used to develop a user-friendly computational tool aimed at estimating the individual risk of rupture in patients with sIA.

Study Type

Observational

Enrollment (Estimated)

252

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Italy
    • MI
      • Milan, MI, Italy
        • Recruiting
        • Fondazione IRCCS Istituto Neurologico Carlo Besta
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients diagnosed with ruptured or unruptured saccular intracranial aneurysms (sIA)

Description

Inclusion Criteria:

  • Adults aged 18 to 80 years, of both sexes
  • Patients diagnosed with ruptured or unruptured saccular intracranial aneurysms (sIA)

Exclusion Criteria:

  • Patients with non-saccular intracranial aneurysms
  • Patients unable to provide informed consent due to language impairment or altered consciousness, in the absence of a legally appointed guardian

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of genetic variants
Time Frame: Within 2 years from patient enrollment and genotyping (Phase I and Phase II).
Identification of genetic variants associated with the risk of rupture in patients with saccular intracranial aneurysms (sIA), through a pathway-based genome-wide association study (GWAS).
Within 2 years from patient enrollment and genotyping (Phase I and Phase II).

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Development of a tool to estimate Rupture Risk
Time Frame: Within 3 years, following completion of biostatistical analysis.
Development of a user-friendly computational tool to estimate individual rupture risk in patients with unruptured sIA, based on combined genetic and clinical data.
Within 3 years, following completion of biostatistical analysis.
Creation of a Biobank
Time Frame: Ongoing during the 2-year enrollment period and maintained beyond study completion.
Creation of an integrated biobank including biological samples (aneurysm wall, CSF, control arterial wall), genetic profiles, and anonymized clinical data from patients with ruptured and unruptured sIA.
Ongoing during the 2-year enrollment period and maintained beyond study completion.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 6, 2014

Primary Completion (Estimated)

December 1, 2027

Study Completion (Estimated)

December 1, 2027

Study Registration Dates

First Submitted

November 14, 2025

First Submitted That Met QC Criteria

November 14, 2025

First Posted (Actual)

November 18, 2025

Study Record Updates

Last Update Posted (Actual)

February 11, 2026

Last Update Submitted That Met QC Criteria

February 9, 2026

Last Verified

October 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ANEUBIO

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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