Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms (ORPHADIAG)
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.
Study Overview
Status
Intervention / Treatment
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 Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Alessandro Pini, MD
- Phone Number: +39 0252774705
- Email: alessandro.pini@grupposandonato.it
Study Contact Backup
- Name: Nathasha S Udugmpolage, Master of Science in Nursing
- Email: nathasha.udugampolage@grupposandonato.it
Study Locations
-
-
Milan
-
San Donato Milanese, Milan, Italy, 20097
- Not yet recruiting
- Cardiovascular Genetic Centre
-
Contact:
- Alessandro Pini
- Phone Number: +39 0252774705
- Email: alessandro.pini@grupposandonato.it
-
Contact:
- Nathasha S Udugampolage
-
San Donato Milanese, Milan, Italy, 20097
- Recruiting
- Cardiovascular Genetic Centre
-
Contact:
- Alessandro Pini
- Phone Number: +39 0252774705
- Email: alessandro.pini@grupposandonato.it
-
Contact:
- Nathasha S Udugampolage
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: FAMILY_BASED
- Time Perspectives: CROSS_SECTIONAL
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
FTAAD
members of families with FTAAD |
WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies |
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
DNA sequences in FTAAD
Time Frame: 16 months
|
Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families |
16 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Mutations associated with Mendelian and monogenic diseases
Time Frame: 24 months
|
Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases. |
24 months
|
Collaborators and Investigators
Sponsor
Collaborators
Publications and helpful links
General Publications
- Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
- Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- ORPHADIAG
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD will be considered for sharing after data collection and analysis
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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