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

N/AActive Not RecruitingNCT06783803

IRCCS Policlinico S. Donato20 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Familial Thoracic Aortic Aneurysm and Aortic Dissection

Interventions

Linkage AnalysisDIAGNOSTIC_TEST

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

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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 Exclusion Criteria: * Subjects wit syndromic FTAAD with WES identified gene mutation * Subjects wit non-syndromic FTAAD with WES identified gene mutation

Locations (1)

Cardiovascular Genetic Centre

San Donato Milanese, Milan, Italy

Outcomes

Primary Outcomes

DNA sequences in FTAAD

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

Time frame: 16 months

Secondary Outcomes

Mutations associated with Mendelian and monogenic diseases

Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases.

Time frame: 24 months

Data from ClinicalTrials.gov

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