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CompletedNCT01322165GenTACUpdated Dec 20, 2016

National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

An observational study in Marfan Syndrome, Turner Syndrome and Ehlers-Danlos Syndrome, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Completed at 7 sites in United States. Per ClinicalTrials.gov, last updated 2016-12-20.

Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
3,706
Sex
All
01

Study summary

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). GenTAC established a registry of 3706 patients with genetic conditions that may be related to thoracic aortic aneurysms and collected medical data and biologic samples. The study ended in September 2016. Data and samples are available from NHLBI and requests should be made to BioLINCC. See the NHLBI website for more information: https://www.nhlbi.nih.gov/research/resources/gentac/.

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Conditions studied

  • Marfan Syndrome
  • Turner Syndrome
  • Ehlers-Danlos Syndrome
  • Loeys-Dietz Syndrome
  • FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation
  • Bicuspid Aortic Valve Without Known Family History
  • Bicuspid Aortic Valve With Family History
  • Bicuspid Aortic Valve With Coarctation
  • Familial Thoracic Aortic Aneurysm and Dissections
  • Shprintzen-Goldberg Syndrome
  • Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo
  • Other Congenital Heart Disease

Keywords

  • Marfan syndrome
  • Turner syndrome
  • Bicuspid aortic valve
  • Ehlers-Danlos Syndrome
  • Loeys-Dietz syndrome
  • Aneurysm
  • Genetic
  • aortic
  • thoracic
  • mutation
  • dissection
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In context

Marfan Syndrome

71 studies on the registry are indexed under Marfan Syndrome; 16 are open to participants now.

This study's enrollment of 3,706 is above the median of 119 across 40 observational studies indexed under Marfan Syndrome.

Browse Marfan Syndrome studies →

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,117 studies on the registry; 71 are open to participants now.

Of its 57 completed or terminated interventional studies of FDA-regulated products, 49 (86%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

The cohort consists of patients with conditions related to genetically-induced thoracic aortic aneurysms.

Eligibility criteria

Eligible subjects must have one of the conditions listed below and be enrolled in-person at one of the participating clinical centers.Contact the study coordinator at the location nearest you for more information about participation.

  • Marfan syndrome
  • Turner syndrome
  • Ehlers-Danlos syndrome
  • Loeys-Dietz syndrome
  • FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation
  • Bicuspid aortic valve without known family history
  • Bicuspid aortic valve with family history
  • Bicuspid aortic valve with coarctation
  • Familial Thoracic Aortic Aneurysm and DissectionsYes
  • Shprintzen-Goldberg syndrome
  • Other aneurysms and dissections of the thoracic aorta not due to trauma, \<50yo
  • Other congenital heart disease (e.g., Tetralogy of Fallot, coarctation)

Exclusion Criteria:

  • Inability of the patient, parent or guardian to give consent.
  • Unwillingness to provide a blood or buccal specimen.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
3,706 participants (actual)
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Thoracic aortic aneurysms and dissections and their associated surgical interventions

    Time frame: bi-annual

07

Study locations

7 sites
  • Queens Medical Center
    Honolulu, Hawaii 96813, United States
  • Johns Hopkins University
    Baltimore, Maryland 21287, United States
  • The New York Presbyterian Hospital-Weill Cornell Medical Center
    New York, New York 10021, United States
  • Oregon Health & Science University
    Portland, Oregon 97239, United States
  • University of Pennsylvania School of Medicine
    Philadelphia, Pennsylvania 19104-4283, United States
  • Baylor College of Medicine
    Houston, Texas 77030, United States
  • University of Texas Medical School at Houston
    Houston, Texas 77030, United States
08

References and documents

Publications

  • Eagle KA; GenTAC Consortium. Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Am Heart J. 2009 Feb;157(2):319-26. doi: 10.1016/j.ahj.2008.10.005. Epub 2008 Dec 17. PubMed 19185640 ↗
  • Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, Carlson OD, Griswold BF, Fu Q, De Backer J, Loeys B, Huso DL, McDonnell NB, Van Eyk JE, Dietz HC; GenTAC Consortium. Circulating transforming growth factor-beta in Marfan syndrome. Circulation. 2009 Aug 11;120(6):526-32. doi: 10.1161/CIRCULATIONAHA.108.841981. Epub 2009 Jul 27. PubMed 19635970 ↗
  • Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PubMed 21698135 ↗
  • Mendoza DD, Kochar M, Devereux RB, Basson CT, Min JK, Holmes K, Dietz HC, Milewicz DM, LeMaire SA, Pyeritz RE, Bavaria JE, Maslen CL, Song H, Kroner BL, Eagle KA, Weinsaft JW; GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Study Investigators. Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. Ann Thorac Surg. 2011 Sep;92(3):904-12. doi: 10.1016/j.athoracsur.2011.03.130. Epub 2011 Jul 2. PubMed 21723533 ↗
  • LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11;43(10):996-1000. doi: 10.1038/ng.934. PubMed 21909107 ↗
  • Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. PubMed 23910461 ↗
  • Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, Bondy CA; GenTAC Investigators. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53-9. doi: 10.1038/gim.2013.77. Epub 2013 Jun 6. Erratum In: Genet Med. 2014 Jan;16(1):117. PubMed 23743550 ↗
  • Cook JR, Carta L, Benard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium; Costa KD, Hajjar RJ, Ramirez F. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014 Mar;124(3):1329-39. doi: 10.1172/JCI71059. Epub 2014 Feb 17. PubMed 24531548 ↗
  • Song HK, Preiss LR, Maslen CL, Kroner B, Devereux RB, Roman MJ, Holmes KW, Tolunay HE, Desvigne-Nickens P, Asch FM, Milewski RK, Bavaria J, LeMaire SA; GenTAC Consortium. Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. J Heart Valve Dis. 2014 May;23(3):292-8. PubMed 25296451 ↗
  • Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, Lindsay ME, Schoenhoff F, Myers L, Huso N, Bachir S, Squires O, Rusholme B, Ehsan H, Huso D, Thomas CJ, Caulfield MJ, Van Eyk JE, Judge DP, Dietz HC; GenTAC Registry Consortium; MIBAVA Leducq Consortium. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Elife. 2015 Oct 27;4:e08648. doi: 10.7554/eLife.08648. PubMed 26506064 ↗
  • Asch FM, Yuriditsky E, Prakash SK, Roman MJ, Weinsaft JW, Weissman G, Weigold WG, Morris SA, Ravekes WJ, Holmes KW, Silberbach M, Milewski RK, Kroner BL, Whitworth R, Eagle KA, Devereux RB, Weissman NJ; GenTAC Investigators. The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry. JACC Cardiovasc Imaging. 2016 Mar;9(3):219-26. doi: 10.1016/j.jcmg.2015.06.023. Epub 2016 Feb 17. PubMed 26897684 ↗
  • Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. PubMed 25557781 ↗
  • Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8. PubMed 26854927 ↗
  • Prakash S, Kuang SQ; GenTAC Registry Investigators; Regalado E, Guo D, Milewicz D. Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. PLoS One. 2016 Apr 19;11(4):e0153543. doi: 10.1371/journal.pone.0153543. eCollection 2016. PubMed 27092555 ↗
  • Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, Morris S, Milewicz DM, Prakash S, Maslen C, Song HK, Silberbach GM, Shohet RV, McDonnell N, Hendershot T, Eagle KA, Asch FM; GENTAC Registry Investigators. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. J Am Coll Cardiol. 2016 Jun 14;67(23):2744-2754. doi: 10.1016/j.jacc.2016.03.570. PubMed 27282895 ↗
  • Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC InvestigatorsDietzHarry C.HabashiJenniferPrakashSiddharth K.MaslenCheryl L.SongHoward K.BavariaJoseph E.MilewskiKariannaWeinsaftJonathan W.McDonnellNazliAschFederico M.TolunayH. EserDesvigne-NickensPatriceTsengHungKronerBarbara L. Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). J Am Heart Assoc. 2016 Aug 11;5(8):e004052. doi: 10.1161/JAHA.116.004052. PubMed 27515814 ↗
  • Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R; BAVCon Investigators, GenTAC Registry Investigators; Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. Am J Med Genet A. 2016 Dec;170(12):3157-3164. doi: 10.1002/ajmg.a.37953. Epub 2016 Sep 8. PubMed 27604636 ↗
  • Guo DC, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR; GenTAC Investigators; BAVCon Investigators; Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 Sep 1;99(3):762-769. doi: 10.1016/j.ajhg.2016.06.034. Epub 2016 Aug 25. PubMed 27569546 ↗
  • Song HK, Bavaria JE, Kindem MW, Holmes KW, Milewicz DM, Maslen CL, Pyeritz RE, Basson CT, Eagle K, Tolunay HE, Kroner BL, Dietz H, Menashe V, Devereux RB, Desvigne-Nickens P, Ravekes W, Weinsaft JW, Brambilla D, Stylianou MP, Hendershot T, Mitchell MS, LeMaire SA; National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium. Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. Ann Thorac Surg. 2009 Sep;88(3):781-7; discussion 787-8. doi: 10.1016/j.athoracsur.2009.04.034. PubMed 19699898 ↗
  • Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, Weinsaft JW, Ravekes W, Menashe V, Eagle KA. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. Am Heart J. 2011 Oct;162(4):627-632.e1. doi: 10.1016/j.ahj.2011.07.002. PubMed 21982653 ↗
  • Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA; Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium. Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. J Thorac Cardiovasc Surg. 2012 Feb;143(2):282-6. doi: 10.1016/j.jtcvs.2011.10.024. Epub 2011 Nov 20. PubMed 22104675 ↗
  • Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, Hendershot T, Eagle KA, Tolunay HE, Desvigne-Nickens P, Silberbach M; GenTAC Registry Consortium. GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. Am J Med Genet A. 2013 Apr;161A(4):779-86. doi: 10.1002/ajmg.a.35836. Epub 2013 Feb 26. PubMed 23444191 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Dec 20, 2016, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT01322165
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Responsible party
Sponsor
First posted
Mar 24, 2011
Start date
Nov 2007
Primary completion
Sep 2015
Completion
Sep 2016
Last update
Dec 20, 2016

Study contacts

Barbara Kroner, PhD, MPH
study director · RTI International
Richard Devereux, MD
principal investigator · The New York Presbyterian Hospital-Weill Cornell Medical Center
William Ravekes, M.D.
principal investigator · Johns Hopkins University
Reed E. Pyeritz, M.D., Ph.D.
principal investigator · University of Pennsylvania
Dianna M. Milewicz, M.D. Ph.D.
principal investigator · University of Texas Medical School at Houston
Scott A. LeMaire, M.D.
principal investigator · Baylor College of Medicine
Cheryl L. Maslen, Ph.D.
principal investigator · Oregon Health and Science University
Ralph Shohet, MD
principal investigator · University of Hawaii
Jennifer Habashi, MD
principal investigator · Johns Hopkins University
Federico M. Asch, MD,FACC,FASE
principal investigator · MedStar Health
Kim Eagle, M.D.
study chair · University of Michigan

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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