National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)

HLB01421717a

GenTAC

False

Released

True

True

Coded

https://www.nhlbi.nih.gov/science/national-registry-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular

False

Epidemiology Study

Open BioLINCC Study

Both

2017-01-19

2017-01-19

2012-07-23

2017-01-06

October 2006 - September 2016

DCVS

Heart

non-HIV

non-COVID

None

None

No

Yes

Yes

Yes

Yes

Yes

Use of data and/or biospecimens is restricted to research involving heart and blood vessel diseases. Study participants were given the option to consent to commercial use of DNA biospecimens, as well as for the creation of cell lines.

Aortic Aneurysm, Thoracic

The overall objective of GenTAC was to establish a registry of patients with genetically induced thoracic aortic aneurysms and related cardiovascular conditions, and collect associated medical data, as well as blood and tissue samples and make them available to investigators to advance research in diagnosis and management of genetically induced thoracic aortic aneurysms.

Thoracic aortic aneurysms (TAAs) predispose individuals to life threatening aortic complications, including aortic dissection and rupture. The treatment of complications arising from TAAs is complex, with high rates of morbidity, mortality, and surgical procedures. TAAs are associated with loss of vascular smooth muscle cells and degeneration of extracellular matrix in the aortic wall. This degeneration may be caused by hypertension and inflammation, particularly in elderly individuals. Genetic mutations are the main cause of TAAs in many young or middle-aged individuals. Genetic disorders, such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome, have a high risk for TAA, and up to 20% of individuals with TAAs or dissection have a family history of TAAs without being affected by a known syndrome or known genetic mutation. While diagnostic and treatment advances have dramatically improved care for patients with genetically induced TAAs, many questions remain about how best to identify and treat these disorders. Thus, GenTAC was developed as a longitudinal registry for patients affected by genetically induced thoracic aortic conditions in order to facilitate ongoing and future investigations to improve the diagnosis and clinical management of patients with genetically induced TAAs. Information gained from studying the genetically induced TAAs is expected to benefit the clinical management of non-genetic TAAs, as well.

Eligible participants must have one of the following conditions: Marfan syndrome; Turner syndrome; Ehlers-Danlos syndrome; Loeys-Dietz syndrome; Shprintzen-Goldberg syndrome; FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation; bicuspid aortic valve; Familial Thoracic Aortic Aneurysm and Dissections; other thoracic aortic aneurysms and dissections (not due to trauma) in patients 50 years of age or less; or other congenital heart disease. Over 3,500 participants were enrolled.

GenTAC was a longitudinal observational cohort study of affected individuals with either known or suspected genetic mutation that predisposes them for thoracic aortic aneurysms and dissections (TAAD). There were no interventions planned, and all decisions regarding approaches to treatment were to be made by the patients and their care teams. Enrollment data were abstracted from medical records or obtained through patient interviews. The data collected include clinical evaluations (by several organ systems), historically diagnosed conditions and outcomes and drug treatment; patient reported quality of life, co-morbidities, family history, smoking, alcohol use, and pregnancy history; most recent imaging evaluations, genetic testing, blood chemistry, and surgical interventions. When blood could not be collected from participants, a saliva sample was obtained as a source of DNA. Excess aortic tissue was frozen from participants that underwent surgery. Follow-up data was collected at regular intervals for each participant enrolled, with the interval varying by the diagnosis. Follow-up data include outcomes, clinical and imaging evaluations and treatment and lifestyle changes since the enrollment visit. Images were read by the imaging core according to the study protocol. Diagnosis of each participant was confirmed by the phenotyping core.

GenTAC established a vast biospecimen inventory and clinical database from over 3500 participants that is available to researchers with the ultimate goal of advancing the diagnosis and management of genetically induced thoracic aortic aneurysms and other cardiovascular complications. Some of the publications resulting from analysis of the GenTAC data and biospecimens can be found at https://www.nhlbi.nih.gov/research/resources/gentac/research.

A list of GenTAC publications can be found on the GenTAC Alliance website.

Aorta Tissue
Buffy Coat
DNA
EBV Cell Line
Lymphocytes
Plasma
Polymorphonuclear Cells/RBC Pellets