Genetic Profile In Patients With Ruptured and Unruptured Intracranial Aneurysms

NCT07233915 | Recruiting

• 1 other identifier: ANEUBIO
• Study Type: observational
• Target: 252
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Aneurism

Keywords

Rupture risk; Genetic factors; Observational study; Biobank; Intracranial aneurysms

Outcome Measures

Primary Outcomes (1)

• Identification of genetic variants

  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 Outcomes (2)

• Development of a tool to estimate Rupture Risk

  Within 3 years, following completion of biostatistical analysis.

• Creation of a Biobank

  Ongoing during the 2-year enrollment period and maintained beyond study completion.

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: lead

Study Sites (1)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, MI, Italy

RECRUITING

Related Publications (14)

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• Bilguvar K, Yasuno K, Niemela M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaal E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jaaskelainen JE, Palotie A, Inoue I, Lifton RP, Gunel M. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008 Dec;40(12):1472-7. doi: 10.1038/ng.240. Epub 2008 Nov 9.

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MeSH Terms

Conditions

Intracranial Aneurysm

Condition Hierarchy (Ancestors)

Intracranial Arterial Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Aneurysm; Vascular Diseases; Cardiovascular Diseases

Central Study Contacts

Marco P Schiariti, MD

CONTACT

+ 39 02.2394; marco.schiariti@istituto-besta.it

Francesco Restelli, MD

CONTACT

02.2394; francesco.restelli@istituto-besta.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2025
• First Posted: November 18, 2025
• Study Start: February 6, 2014
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: February 11, 2026

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)