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

Name

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

Accession Number

HLB01421717a

Acronym

GenTAC

Related studies

BSI Study IDs

GTC

Is public use dataset

False

Keywords

Has Study Datasets

True

Has Specimens

True

Specimen ID Type

Coded

Study Website

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

The Framingham Heart Study Group requires that the requestor must obtain full or expedited IRB/Ethics Committee review and approval to obtain these data. Waivers or a determination that the research is exempt from ethical regulations do not suffice.

False

Study type

Epidemiology Study

Collection Type

Open BioLINCC Study

Cohort type

Both

Interventions

Study Open Date (Data)

2017-01-19

Study Open Date (Specimens)

2017-01-19

Date materials available

2012-07-23

Last updated

2017-01-06

Study period

October 2006 - September 2016

Study Contacts
NHLBI Division

DCVS

Classification

Heart

HIV study classification

non-HIV

COVID study classification

non-COVID

Pre-Website # of Specimens Shipped

None

# of Returned Specimens

None

Conditions

Aortic Aneurysm, Thoracic

Objectives

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.

Background

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.

Participants

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.

Design

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.

Conclusions

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.

Disease classification

Publications

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

Mat types

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

Network

The study population available in BioLINCC study data may be lower than total study enrollment due to Informed Consent restrictions and other factors.

  • Subjects
    SYNDROMEFrequency
    Missing3
    Marfan syndrome845
    Turner syndrome298
    Ehlers-Danlos syndrome, vascular149
    Ehlers-Danlos syndrome, other26
    Loeys-Dietz syndrome104
    FBN1, TGFBR1 or TGFBR2 genetic mutation65
    Bicuspid aortic valve w/out family history869
    Bicuspid aortic valve w/ family history20
    Shprintzen-Goldberg syndrome4
    Familial Thoracic Aortic Aneurysm and Dissection369
    Other aneurysms/dissections of the thoracic aorta not due to trauma (<40 years old)592
    Other congenital heart disease w/ family history115
    1st or 2nd degree family member of probrand already enrolled in GenTAC31
    BAV with coarctation79


    NOTE: 50 subjects were flagged with multiple syndromes. These subjects are included in each syndrome's count.
     


    Last Modified: Jan. 25, 2024, 9:53 a.m.
  • Age
    age_catFrequencyPercentCumulative
    Frequency
    Cumulative
    Percent
    Missing119734.04119734.04
    Discrepant60.17120334.22
    <101073.04131037.26
    10-1936410.35167447.61
    20-292787.91195255.52
    30-3937210.58232466.10
    40-4946413.20278879.29
    50-5945112.83323992.12
    60-692055.83344497.95
    70-79581.65350299.60
    >=80140.403516100.00

    Last Modified: Jan. 25, 2024, 9:53 a.m.
  • Sex
    GENDERFrequencyPercentCumulative
    Frequency
    Cumulative
    Percent
    Missing108130.75108130.75
    Male137038.96245169.71
    Female106530.293516100.00

    Last Modified: Jan. 25, 2024, 9:53 a.m.
  • Race
    raceFrequencyPercentCumulative
    Frequency
    Cumulative
    Percent
    Missing111631.74111631.74
    Discrepant160.46113232.20
    White212960.55326192.75
    Black/African American892.53335095.28
    Asian802.28343097.55
    American Indian/Alaska Native50.14343597.70
    Native Hawaiian/Pacific Islander320.91346798.61
    Mixed491.393516100.00

     

    ETHNICITYFrequencyPercentCumulative
    Frequency
    Cumulative
    Percent
    Missing119433.96119433.96
    Discrepant50.14119934.10
    No216661.60336595.71
    Yes1514.293516100.00

    Last Modified: Jan. 25, 2024, 9:53 a.m.

Please note that biospecimen availability is subject to review by the NHLBI, BioLINCC, and the NHLBI Biorepository. Certain biospecimens may not be made available for your request. Section 3 of the BioLINCC handbook describes the components of the review process

  • Material Types

    Aorta Tissue, Plasma, Lymphocytes, EBV Cell Line, DNA, Buffy Coat, PMNC/RBC Pellet


    Last Modified: Feb. 22, 2017, 5:14 p.m.
  • General Freeze/Thaw Status

    01/11/2022

     Number of Freeze/Thaws
    0123456
    DRAWVIAL: Material Type9......
    UnknownDNA
    Draw 1Aorta Tissue5238486...
    Plasma12046206.....
    Lymphocytes1870......
    EBV Cell Line47653465216....
    DNA237151035703861304164
    Buffy Coat857..1...
    PMNC/RBC Pellet1830......
    Draw 2Aorta Tissue455146....
    Plasma7674.....
    Lymphocytes96......
    EBV Cell Line18516022....
    DNA34342166205..
    Buffy Coat61......
    PMNC/RBC Pellet109......
    Draw 3Aorta Tissue5......
    Plasma60......
    Lymphocytes9......
    EBV Cell Line1015.....
    DNA.27105...
    Buffy Coat5......
    PMNC/RBC Pellet9......

    Last Modified: Jan. 25, 2024, 9:51 a.m.
  • Visits (Vials)

    01/11/2022

    Table of DRAW by MATTYPE
    DRAWMATTYPE(VIAL: Material Type)
    FrequencyAorta TissuePlasmaLymphocytesEBV Cell LineDNABuffy CoatPMNC/RBC PelletTotal
    Unknown00009009
    Draw 1621122521870844622228858183048105
    Draw 247577196367567611092446
    Draw 35609254259155
    Total1101130831975883822846924194850715

    Last Modified: Jan. 25, 2024, 9:51 a.m.
  • Visits (Subjects)

    01/11/2022

     Aorta Tissue
    Subject CountAverage number of vials per subject
    Draw 1738.51
    Draw 2558.64
    Draw 322.50

     

     Plasma
    Subject CountAverage volume (mL) per subject
    Draw 11,8203.26
    Draw 2993.17
    Draw 373.39
     Lymphocytes
    Subject CountAverage number of vials per subject
    Draw 11,8341.02
    Draw 2901.07
    Draw 371.29

     

     EBV Cell Line
    Subject CountAverage number of vials per subject
    Draw 11,6944.99
    Draw 2744.96
    Draw 355.00

      

     DNA
    Subject CountAverage mass (ug) per subject
    Unknown149.00
    Draw 13,02485.52
    Draw 277104.71
    Draw 35115.21

     

     Buffy Coat
    Subject CountAverage number of vials per subject
    Draw 18581.00
    Draw 2601.02
    Draw 351.00


     

     PMNC/RBC Pellet
    Subject CountAverage number of vials per subject
    Draw 18702.10
    Draw 2551.98
    Draw 351.80


     


    Last Modified: Jan. 25, 2024, 9:51 a.m.