Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms

NCT06783803 | Active Not Recruiting

• 1 other identifier: ORPHADIAG
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.

Conditions

Familial Thoracic Aortic Aneurysm and Aortic Dissection

Keywords

familial thoracic aortic aneurysm and dissection; Linkage analysis; biomarkers

Outcome Measures

Primary Outcomes (1)

• DNA sequences in FTAAD

  Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families

  16 months

Secondary Outcomes (1)

• Mutations associated with Mendelian and monogenic diseases

  24 months

Study Arms (1)

FTAAD

members of families with FTAAD

Diagnostic Test: Linkage Analysis

Interventions

Linkage Analysis DIAGNOSTIC_TEST

WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies

FTAAD

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.

You may qualify if:

• Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
• Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES
• Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
• Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
• Signed informed consent

You may not qualify if:

• Subjects wit syndromic FTAAD with WES identified gene mutation
• Subjects wit non-syndromic FTAAD with WES identified gene mutation

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• IRCCS Ospedale San Raffaele: collaborator

Study Sites (1)

Cardiovascular Genetic Centre

San Donato Milanese, Milan, 20097, Italy

Location

Related Publications (2)

• Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.

  PMID: 27297344 BACKGROUND

• Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.

  PMID: 29708033 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole Exome Sequencing (WES) of peripheral blood of patients with FTAAD

MeSH Terms

Conditions

Aortic Aneurysm, Familial Thoracic 1

Interventions

Genetic Linkage

Intervention Hierarchy (Ancestors)

Genetic Phenomena

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Pincipal Investigator

Study Record Dates

• First Submitted: January 14, 2025
• First Posted: January 20, 2025
• Study Start: June 15, 2024
• Primary Completion (Estimated): May 1, 2029
• Study Completion (Estimated): June 1, 2029
• Last Updated: January 20, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)