International Bicuspid Aortic Valve Consortium (BAVCon)

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Brigham and Women's Hospital
Sponsor:
Information provided by (Responsible Party):
Simon Body, Brigham and Women's Hospital
ClinicalTrials.gov Identifier:
NCT01980797
First received: November 5, 2013
Last updated: November 8, 2013
Last verified: November 2013
  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:

  1. To identify the genetic causes of bicuspid aortic valve disease and its associated thoracic aortic disease.
  2. 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:


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

  Hide Detailed Description

Detailed Description:

The International Bicuspid Aortic Valve Consortium (BAVCon) Registry is the data collection arm of the International Bicuspid Aortic Valve Consortium, a 16 institution international consortium of investigators with interests in the genetics, molecular biology, imaging, surgery and natural history of bicuspid aortic valve disease.

The BAVCon Registry is a longitudinal cohort study, which is observational by design. The cohort will consist of patients with BAV. Consideration will be given to eventual inclusion of a disease-free control or comparison group. The study will compare genetic risk factors, cross-sectional and longitudinal data on risk factors related to the diagnosis, treatment and outcomes among groups of enrolled patients. As part of the natural course of clinical care, the patients and their physicians will determine the approach to treatment and the study will record the observed related outcomes. The study will not attempt to interfere with the outcomes through any type of planned intervention; therefore, there are no anticipated adverse events as a result of study participation.

Study Design

The Registry is designed to capture information on patients with bicuspid aortic valve disease. The BAVCon Registry population will be comprised of patients from sixteen BAVCon Clinical Centers. The participating BAVCon Clinical Centers are:

  • Harvard University / Partners Healthcare, Boston (Dr. Simon Body, Consortium PI)
  • GenTAC Consortium (Dr. Kim Eagle, PI)
  • Hospital Vall d'Hebron, Barcelona, Spain (Dr. Arturo Evangelista, PI)
  • Monaldi Hospital, Naples, Italy (Dr. Giuseppe Limongelli, PI)
  • Mayo Clinic, Rochester (Dr. Hector Michelena, PI)
  • Oxford University, Oxford, England (Dr. Malenka Bissell, PI)
  • Saarland University Medical Center, Saarland, Germany (Dr. Hans-Joachim Schäfers, PI)
  • San Donato Hospital IRCCS, Milan, Italy (PI: Dr. Alessandro Frigiola)
  • Tufts University, Boston (Dr. Gordon Huggins, PI)
  • Université de Liège, Liege, Belgium (Dr. Patrizio Lancelotti, PI)
  • Université Laval, Quebec (Dr. Yohan Bossé, PI)
  • University of Michigan, Ann Arbor (Dr. Anna Booher, PI)
  • University of Pennsylvania, Philadelphia (Dr. Joseph Bavaria, PI)
  • University of Salerno, Salerno, Italy (Dr. Eduardo Bossone, PI)
  • University of Texas Medical School, Houston (Dr. Dianna Milewicz, PI) One center with specific expertise, but not enrolling patients, is University of Ottawa (Dr. Mona Nemer, PI).

The data supplied by each participating center are collected from the following sources:

Patient interview or questionnaire Hospital medical records Surgical records Imaging studies

Enrollment Information about the Registry will be disseminated to potential study subjects using a number of sources. The principal means of enrollment will be from the Cardiology and Surgical Clinics of each Hospital. In addition, collaborations with the patient advocacy groups such as the Bicuspid Aortic Valve Foundation. These organizations have well established resources for providing information to patients such as websites, newsletters, and national conferences. A recruitment brochure has been developed to explain the goals and basic procedures of the Registry. Finally, the study website, http://www.bavcon.org, will inform potential subjects about the Registry. All recruitment materials will be approved by the DCC and BCC IRBs, as appropriate, prior to dissemination.

BCC study staff will identify eligible patients using the eligibility criteria developed and approved by the Steering Committee. They will both screen their current patient population as well as identify new patients that attend the clinic. Eligible patients will be solicited during clinic visits according to protocols approved by the local IRB.

Initially, a care provider will introduce the Registry to the patient or the parent or guardian of the patient, and ask if they are interested in talking further with the research coordinator. If the patient (or parent or guardian) agrees, the research coordinator will meet with the patient for a more comprehensive explanation of the Registry. If there is continued agreement, the research coordinator will proceed with the consent and enrollment process. Signed informed consent will be obtained prior to any data or sample collection. Patients will receive a hard-copy of the consent form to keep. Patients will be able to ask questions at any time. One parent or guardian may provide signed consent for a minor child or other person with a physical or mental condition that prevents them from doing so themselves. Literacy in the native language of the country (English and Spanish in the USA) will be required of the consenting patient or parent/guardian. Child assent will be obtained from children at least 8 years of age, or as determined by the local IRB. Across all the sites, we anticipate total enrollment of up to 10,000 patients.

Eligibility Criteria

Inclusion criteria for entry into the Registry are:

  • Patients diagnosed with bicuspid aortic valve
  • All ages ≥8 years
  • Able to provide fully informed consent

Local Site Restrictions Some sites will not be collecting tissue from patients, therefore information on tissue collection will be absent. Some sites do not routinely perform CT or MRI on their patients, so these data will also be absent.

  Eligibility

Ages Eligible for Study:   8 Years to 90 Years
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:

  • None
  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
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   
Sponsors and Collaborators
Brigham and Women's Hospital
Investigators
Study Chair: Simon C Body, MD MPH Brigham and Women's Hospital
  More Information

Additional Information:
No publications provided

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: November 8, 2013
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:
Aortic Diseases
Aortic Valve Stenosis
Heart Valve Diseases
Heart Defects, Congenital
Vascular Diseases
Cardiovascular Diseases
Heart Diseases
Ventricular Outflow Obstruction
Cardiovascular Abnormalities
Congenital Abnormalities

ClinicalTrials.gov processed this record on September 14, 2014