Clinical trial NCT03510689: Genetics and Heart Health After Cancer Therapy
Official title: Genetics and Heart Health After Cancer Therapy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Cancer
Hereditary Breast/Ovarian Cancer (brca1, Brca2)
Heart Diseases
Drug-Induced Cardiomyopathy
Keywords: Cardio-oncology
Lead sponsor: Abramson Cancer Center at Penn Medicine
Sponsor class: OTHER
First posted: 2018-04-27
Enrollment: 79
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Initial diagnosis of Breast Cancer in 2005 or later BRCA testing documenting either germline mutation in BRCA1/BRCA2 or no mutation in BRCA1/2.

Brief summary: The overall objective of this study is to use patient-centered in vitro and in vivo models to answer the fundamental question of whether or not pathogenic mutations in BRCA1/2 result in an increased risk of CV disease


Eligibility criteria: Inclusion Criteria

* ≥18 years of age
* Initial diagnosis of Breast Cancer in 2005 or later
* Documented BRCA testing (results from a local laboratory are acceptable) showing

  * confirmation of a germline mutation in BRCA1 or BRCA2 that is predicted or suspected to be deleterious OR
  * confirmation that no mutation was detected in BRCA1 or BRCA2
* Non-carriers will have been treated with an anthracycline-based chemotherapy regimen; carriers may or may not have been treated with an anthracycline-based chemotherapy regimen.
* Approximately at least 12 months from initiation of adjuvant treatment or neo-adjuvant chemotherapy
* Able to provide informed consent

Exclusion Criteria

* Stage IV Breast Cancer
* Genetic testing confirming a variant of unknown significance (VUS) or benign polymorphism in BRCA1 or BRCA2
* V02 Testing contraindicated for any reason, including:

  * Myocardial infarction (within past 3 months)
  * High-risk unstable angina;
  * High-risk or uncontrolled cardiac arrhythmias;
  * Symptomatic severe aortic stenosis;
  * Uncontrolled symptomatic heart failure;
  * Acute pulmonary embolus or pulmonary infarction;
  * Acute myocarditis or pericarditis;
  * Acute aortic dissection;
  * Coronary revascularization procedure within the past three months;
  * Uncontrolled hypertension, defined as systolic blood pressure ≥ 180mmHg or diastolic blood pressure ≥ 100mmHg;
  * Clinically significant valvular heart disease (severe stenosis or regurgitation);
  * Known aortic aneurysm; or
  * Any other condition which, in the opinion of the investigator, may impede testing of the study hypothesis or make it unsafe to engage in the V02 test
* Women who are pregnant
* Any other clinically significant medical disease or condition that, in the investigator's opinion, may interfere with protocol adherence or a subject's ability to give informed consent

Primary outcomes:
measure: Left Ventricular Ejection Fraction
timeFrame: 6 years
Secondary outcomes:
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Abramson Cancer Center of the University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: Abramson Cancer Center at Penn Medicine
name: Bonnie Ky, MD
role: PRINCIPAL_INVESTIGATOR
References: