Ignite Creation Date:
2024-05-06 @ 3:47 PM
Last Modification Date:
2024-10-26 @ 1:56 PM
Study NCT ID:
NCT04751058
Status:
COMPLETED
Last Update Posted:
2022-04-22
First Post:
2020-12-21
Brief Title:
Genetic Profile in Patients With Aortic Syndrome
Sponsor:
Hospitales Universitarios Virgen del Rocío
Organization:
Hospitales Universitarios Virgen del Rocío
Study Overview
Official Title:
Genetic Profile in Patients With Aortic Syndrome
Status:
COMPLETED
Status Verified Date:
2022-04
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:
GEN-AOR
Brief Summary:
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
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
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 Illuminas 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 001 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
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 Illuminas 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 001 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 Oversight
Has Oversight DMC:
None
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?:
None
Is an FDA AA801 Violation?:
None