Genetic Profile in Patients With Aortic Syndrome (GEN-AOR)

April 21, 2022 updated by: Antonio M. Puppo Moreno, Hospitales Universitarios Virgen del Rocío

The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques. Aortic dissection (AD) can cause sudden cardiac death (SCD). Approximately 95% of thoracic AAS are clinically "silent" until a life-threatening complication arises in an unpredictable manner and presents as sudden cardiac death. The peak incidence of death caused by aortic dissection occurs within 48 hours, therefore, timely diagnosis is essential and saves lives.

We have traditionally associated as risk factors in patients with ASA long-term arterial hypertension, present in 66-75% of cases, smoking, dyslipidemia or atherosclerotic disease. Likewise, any condition that alters the structure of the aorta such as: collagen diseases, aneurysms, bicuspid aorta, and manipulation of the thoracic aorta (cardiac surgery, 18%, or percutaneous intervention that can injure the intima) is involved in ASA. In addition to the well-known hereditary syndromes that affect collagen (Marfan, Elher-Danlos ...) there is a clear familial aggregation: 13-19% of patients without identifiable syndrome have first-degree relatives with thoracic aortic aneurysms or ICD, something that has been called "thoracic aortic dissection and familial aneurysm syndrome."

Notable achievements have been made in the discovery of genetic mutations associated with SAA and key regulatory molecules involved, including the extracellular matrix (ECM), cytoskeletal proteins, and the TGF-β signaling pathway. Identification of the causative gene is advantageous for both patients and their families, especially those who do not show symptoms. The specific underlying genotype could benefit the process of diagnosis, surveillance and surgery, with the aim of reducing morbidity and mortality

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

HYPOTHESIS.:

A proportion of patients admitted to the Hospital with a diagnosis of Aortic Syndrome without phenotypic characteristics are carriers of mutations. The presence of these mutations can condition both the indication for treatment, post-surgical aortic remodeling, and family traceability.

OBJECTIVE.:

The objective of this study is to analyze the prevalence of mutations in non-phenotypic patients admitted urgently due to Aortic Syndrome.

Material and method:

Patients admitted to the Intensive Care Unit of the Virgen del Rocio University Hospital in Seville (third level Hospital) with the diagnosis of Aortic Syndrome will be included. The clinical and angiographic variables were analyzed. All patients will undergo, with prior informed consent, a peripheral blood extraction, from which a DNA sample will be obtained using the ChemagicTM 360 equipment. This DNA will be processed for massive sequencing on Illumina's NextSeq500 platform using the technology Capture SeqCap EZ Choice Library NimbleGen. The data generated will be analyzed bioinformatically and the identified variants prioritized based on their population frequency (<0.01), location (exonic and close to splicing sites), their presence in databases of clinical significance ClinVar, HGMD and LOVD and the phenotypic association of the mutated gene OMIM and Orphanet.

Study Type

Observational

Enrollment (Actual)

73

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Sevilla, Spain, 41012
        • Hospital Universitario Virgen del Rocío
    • Andalucia
      • Sevilla, Andalucia, Spain, 41012
        • Hospital Universitario Virgen del Rocío

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The study includes all patients who are admitted with the diagnosis of Acute Aortic Syndrome verified by imaging techniques (CT Angiography) in the Intensive Care Unit of a tertiary Hospital with a 24-hour Cardiac and Vascular Surgery Service

Description

Inclusion Criteria:

  • Patient older than 16 years
  • Patients admitted alive with a diagnosis of acute aortic syndrome
  • Written consent to be DNA analysis and conservation in the DNA bank

Exclusion Criteria:

  • Refusal to participate in the study and , or analysis of their DNA.
  • Without life expectancy and , or Income without life.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
% of patients with presence of Missense mutations
Time Frame: post-treatment
massive sequencing
post-treatment
% of patients with presence of splicing mutations
Time Frame: post-treatment
massive sequencing
post-treatment
% of patients with presence of frameshift mutations
Time Frame: post-treatment
massive sequencing
post-treatment
% of patients with presence of nonframeshift mutations
Time Frame: post-treatment
massive sequencing
post-treatment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospitales Universitarios Virgen del Rocío

Investigators

  • Principal Investigator: Antonio M Puppo Moreno, MD;PhD, Andaluz Health Service

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 27, 2021

Primary Completion (Actual)

March 30, 2022

Study Completion (Actual)

March 30, 2022

Study Registration Dates

First Submitted

December 21, 2020

First Submitted That Met QC Criteria

February 10, 2021

First Posted (Actual)

February 11, 2021

Study Record Updates

Last Update Posted (Actual)

April 22, 2022

Last Update Submitted That Met QC Criteria

April 21, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HU Virgen Rocio

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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