Ignite Creation Date:
2025-12-24 @ 7:47 PM
Ignite Modification Date:
2026-01-02 @ 5:02 AM
Study NCT ID:
NCT06783803
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-01-20
First Post:
2025-01-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
Sponsor:
IRCCS Policlinico S. Donato
Organization:
Study Overview
Official Title:
Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2025-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
ORPHADIAG
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.
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.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?: