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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-06-15

Study Completion Date

2029-06-30

Brief Summary

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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.

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Detailed Description

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According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.

Conditions

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Familial Thoracic Aortic Aneurysm and Aortic Dissection

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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FTAAD

members of families with FTAAD

Linkage Analysis

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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Linkage Analysis

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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* 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