NCT06783803

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

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: IRCCS Policlinico S. Donato · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed 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.

Conditions

• Familial Thoracic Aortic Aneurysm and Aortic Dissection

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Linkage Analysis	WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies

Timeline

• Start date: 2024-06-15
• Primary completion: 2029-05-01
• Completion: 2029-06-01
• First posted: 2025-01-20
• Last updated: 2025-01-20

Locations

1 site across 1 country: Italy