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

San Donato Group (GSD)

Status: Active, not recruiting

Conditions: Familial Thoracic Aortic Aneurysm and Aortic Dissection

Treatments: Diagnostic Test: Linkage Analysis

Study type: Observational

Funder types: Other

Identifiers

NCT06783803

ORPHADIAG

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 20 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

20 participants in 1 patient group

FTAAD

Description:

members of families with FTAAD

Treatment:

Diagnostic Test: Linkage Analysis