The Link Between BRCA Mutation and Endothelial Function

The Link Between BRCA Mutation and Endothelial Function - A Pilot Study

This study evaluates the effect of BRCA1&2 mutations on cardiovascular diseases by to comparing the endothelial function of male BRCA mutation carriers with that of age matched non-BRCA mutation carriers.

Study Overview

• Status: Unknown
• Conditions: BRCA1 Gene Mutation; BRCA2 Gene Mutation
• Intervention / Treatment: Other: Endothelial function assessment; Other: Cardiovascular biomarkers; Other: Endothelial cells

• Study Type: Interventional
• Enrollment (Anticipated): 82
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: David Margel, MD, PhD; Phone Number: +972(0)39376553; Email: sdmargel@gmail.com

Study Locations

• Israel
  • Petah Tikva, Israel
    • Recruiting
    • Rabin Medical Center, Beilinson Hospital
    • Contact: David Margel, MD PhD; Phone Number: +972(0)39376553

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 70 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Male

Description

Inclusion Criteria:

• Known carrier or non-carrier, confirmed by genetic testing of BRCA 1/2 mutation
• Able and willing to sign an informed consent

Exclusion Criteria:

• History of, or current, malignancy

• History of:

  • Myocardial infarction
  • Ischemic or Hemorrhagic cerebrovascular conditions
  • Arterial embolic and thrombotic events
  • Ischemic heart disease
  • Prior coronary artery or ilio-femoral artery revascularization (percutaneous or surgical procedures)
  • Peripheral vascular disease (e.g. claudication, prior vascular surgery/intervention)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: SCREENING
• Allocation: NON_RANDOMIZED
• Interventional Model: CROSSOVER
• Masking: NONE

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
OTHER: male BRCA mutations carriers; Endothelial function assessment and Cardiovascular biomarkers	Other: Endothelial function assessment; reactive hyperemia index; Other: Cardiovascular biomarkers; Cardiovascular biomarkers will be measure to test other aspects of endothelial and cardiac function: high-sensitivity troponin (hsTn) , C-reactive protein , D-dimer, N-terminal pro-brain natriuretic peptide (NT-proBNP); Other: Endothelial cells; Endothelial Progenitor Cells and Circulating Endothelial Cells profiles- will be characterized to evaluate endothelial injury.
OTHER: healthy males - control group; Endothelial function assessment and Cardiovascular biomarkers	Other: Endothelial function assessment; reactive hyperemia index; Other: Cardiovascular biomarkers; Cardiovascular biomarkers will be measure to test other aspects of endothelial and cardiac function: high-sensitivity troponin (hsTn) , C-reactive protein , D-dimer, N-terminal pro-brain natriuretic peptide (NT-proBNP); Other: Endothelial cells; Endothelial Progenitor Cells and Circulating Endothelial Cells profiles- will be characterized to evaluate endothelial injury.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
reactive hyperemia index will be assessed using the Endo-PAT2000	will be assessed using the Endo-PAT2000	at baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The level of high sensitivity troponin (hsTn) - a cardiovascular risk biomarker will be measured	high sensitivity troponin (hsTn)	at baseline
The level of C-reactive protein - a cardiovascular risk biomarker will be measured	C-reactive protein	at baseline
The level of D-dimer - a cardiovascular risk biomarker will be measured	D-dimer	at baseline
The level of N-terminal pro-brain natriuretic peptide (NT-proBNP) - a cardiovascular risk biomarker will be measured	N-terminal pro-brain natriuretic peptide (NT-proBNP)	at baseline
Endothelial Progenitor Cells profile (EPC) - will be characterized to evaluate endothelial injury.	Endothelial Progenitor Cells (EPC)	at baseline
Circulating Endothelial Cells profile (CEC) - will be characterized to evaluate endothelial injury.	Circulating Endothelial Cells (CEC)	at baseline

Collaborators and Investigators

• Sponsor: Rabin Medical Center
• Investigators: Principal Investigator: David Margel, MD, PhD, Rabn Medical Center, Beilinson Campus

Study record dates

Study Major Dates

• Study Start: February 1, 2015
• Primary Completion (ANTICIPATED): July 1, 2018
• Study Completion (ANTICIPATED): November 1, 2018

Study Registration Dates

• First Submitted: February 23, 2015
• First Submitted That Met QC Criteria: June 12, 2015
• First Posted (ESTIMATE): June 17, 2015

Study Record Updates

• Last Update Posted (ACTUAL): July 18, 2017
• Last Update Submitted That Met QC Criteria: July 13, 2017
• Last Verified: October 1, 2016

More Information

Terms related to this study

• Other Study ID Numbers: 0594-14-RMC

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED