International Bicuspid Aortic Valve Consortium (BAVCon) - Full Text View

Purpose

Bicuspid aortic valve (BAV) disease is the most frequent congenital cardiac malformation, occurring in 0.5-1.2% of the US population. In young adults, it is generally a benign abnormality; but in older adults it is associated with thoracic aortic aneurysm or dissection in 20-30% of those with BAV. BAV is strongly associated with early development of aortic valve calcification or incompetence in >50% of BAV patients, and accounts for ~40% of the >30,000 aortic valve replacements (AVR) performed in the US each year. Yet, we know little of the etiology, cellular events and modifiers of progression of BAV to calcific aortic valve disease and we still do not understand the genetic cause(s) of BAV despite evidence for its high heritability.

The Specific Aims of this study are:

To identify the genetic causes of bicuspid aortic valve disease and its associated thoracic aortic disease.
To identify potential pathways to predict the clinical course of BAV disease and for treating human BAV disease.

To achieve these aims, we have created the International Bicuspid Aortic Valve Consortium (BAVCon), a consortium of institutions with cohorts of BAV patients and the expertise to fulfill the performance of these aims.

Condition
Bicuspid Aortic Valve Disease Thoracic Aortic Disease in Patients With a Bicuspid Aortic Valve


Study Type:	Observational [Patient Registry]
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Target Follow-Up Duration:	10 Years
Official Title:	International Bicuspid Aortic Valve Consortium (BAVCon)

Resource links provided by NLM:

Genetics Home Reference related topics: supravalvular aortic stenosis

Genetic and Rare Diseases Information Center resources: Aortic Valve Stenosis

U.S. FDA Resources

Further study details as provided by Brigham and Women's Hospital:

Primary Outcome Measures:

Bicuspid aortic valve disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]
The first specific aim is to identify the genetic causes of bicuspid aortic valve disease.

Secondary Outcome Measures:

The development of thoracic aortic disease in patients with bicuspid aortic valve disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]
The second specific aim is to identify genetic and non-genetic factors to cause thoracic aortic disease in BAV patients.

Biospecimen Retention: Samples With DNA

We are collecting DNA from either saliva or blood.


Estimated Enrollment:	10000
Study Start Date:	November 2013
Estimated Study Completion Date:	November 2033
Estimated Primary Completion Date:	November 2023 (Final data collection date for primary outcome measure)

Groups/Cohorts
Bicuspid aortic valve disease Group/Cohort Label - Bicuspid aortic valve Group/Cohort Description - Patients diagnosed with bicuspid aortic valve All ages ≥8 years Able to provide fully informed consent
Tricuspid aortic valve control patients Group/Cohort Label - Tricuspid aortic valve control patients Group/Cohort Description -Control patients will come from approximately matched patients without an identified bicuspid aortic valve who are trace, gender and geographically matched. Patients not diagnosed with bicuspid aortic valve All ages ≥8 years Able to provide fully informed consent

Show Detailed Description

Eligibility


Ages Eligible for Study:	8 Years to 90 Years (Child, Adult, Senior)
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Patients with and without bicuspid aortic valves disease

Criteria

Inclusion Criteria:

Patients diagnosed as having a bicuspid aortic valve
All ages ≥8 years
Able to provide fully informed consent

Exclusion Criteria:

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01980797

Contacts


Contact: Simon C Body, MD MPH	617-732-8127	sbody@partners.org

Locations


United States, Massachusetts
Tufts Medical Center	Recruiting
Boston, Massachusetts, United States, 02111
Contact: Gordon Huggins, MD 617-636-2807 ghuggins@tuftsmedicalcenter.org
Brigham and Women's Hospital	Recruiting
Boston, Massachusetts, United States, 02115
Contact: Simon C Body, MD MPH 617-732-8127
Contact: Michael Franke, MD MPH 617-732-8127 mfrancke@partners.org
United States, Michigan
University of Michigan	Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Anna Booher, MD 734-998-7955 amanion@med.umich.edu
Contact: Mike Ranella 734-232-4128 ranellam@med.umich.edu
United States, Minnesota
Mayo Clinic	Recruiting
Rochester, Minnesota, United States, 55905
Contact: Hector Michelena, MD 507-284-3687 michelena.hector@mayo.edu
Contact: Maurice Sarano, MD, FACC, FAHA 507-284-2904 sarano.maurice@mayo.edu
United States, Tennessee
Vanderbilt University	Recruiting
Nashville, Tennessee, United States, 37232
Contact: Josh Denny, MD, MS 615-936-1556 josh.denny@vanderbilt.edu
Contact: Emilia McCann 615-936-1542 emilia.mccann@vanderbilt.edu
United States, Texas
University of Texas Health Science Center at Houston	Recruiting
Houston, Texas, United States, 77030
Contact: Siddharth Prakash, MD, PhD 713-500-7003 Siddharth.K.Prakash@uth.tmc.edu
Contact: Truc Baccam, RN 713-500-6715 Truc.Baccam@uth.tmc.edu
Canada, Quebec
Laval University	Recruiting
Quebec City, Quebec, Canada, G1V 4G5
Contact: Yohan Bossé, PhD 418-656-8711 ext 3725 yohan.bosse@criucpq.ulaval.ca
Contact: Patrick Mathieu, MD, FRCSC 418-656-8711 ext 3173 patrick.mathieu@chg.ulaval.ca
Italy
Istituto Policlinico San Donato	Recruiting
San Donato Milanese, Milan, Italy, 20097
Contact: Alessandro Frigiola 39-0252774519 alessandro.frigiola@grupposandonato.it
Contact: Francesca Pluchinotta, MD 39-0252774502 francesca.pluchinotta@grupposandonato.it
Monaldi Hospital	Recruiting
Naples, Italy, 80100
Contact: Giuseppe Limongelli, MD, PhD, FESC, FAHA 39-0817064050 limongelligiuseppe@libero.it
Contact: Fiorella Fratta, MD 39 3384733322 fiorellafratta@hotmail.it
Second University of Naples	Recruiting
Naples, Italy, 80131
Contact: Alessandro Della Corte, MD, PhD 39 081 706 4020 aledellacorte@libero.it
Contact: Ciro Bancone, MD, PhD 39 347 6268544 cirobancone@vodafone.it
University of Salerno	Recruiting
Salerno, Italy, 36-83023
Contact: Eduardo Bossone, MD, PhD 39-328-5415438 ebossone@hotmail.com
Contact: Rodolfo Citro, MD, PhD 39 089 673377 rodolfocitro@gmail.com
Spain
Hospital Vall d'Hebron	Recruiting
Barcelona, Spain, 08035
Contact: Arturo Evangelista, MD arturevangelistamasip@gmail.com
United Kingdom
University of Oxford	Recruiting
Oxford, United Kingdom, OX3 9DU
Contact: Malenka Bissell, MD, BM, MRCPCH 44 01865-221875 malenka.bissell@cardiov.ox.ac.uk

Sponsors and Collaborators

Brigham and Women's Hospital

Investigators


Study Chair:	Simon C Body, MD MPH	Brigham and Women's Hospital

More Information


Responsible Party:	Simon Body, Associate Professor, Brigham and Women's Hospital
ClinicalTrials.gov Identifier:	NCT01980797 History of Changes
Other Study ID Numbers:	2013P000260
Study First Received:	November 5, 2013
Last Updated:	July 20, 2016
Health Authority:	United States: Institutional Review Board

Keywords provided by Brigham and Women's Hospital:


Bicuspid aortic valve disease Thoracic aortic disease Genetics	Echocardiography Cardiac CT Cardiac MRI

Additional relevant MeSH terms:


Heart Defects, Congenital Heart Valve Diseases Aortic Valve Stenosis Aortic Diseases Cardiovascular Abnormalities	Cardiovascular Diseases Heart Diseases Congenital Abnormalities Ventricular Outflow Obstruction Vascular Diseases

ClinicalTrials.gov processed this record on September 27, 2016

International Bicuspid Aortic Valve Consortium (BAVCon) (BAVCon)