Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

• Conditions: Spontaneous Coronary Artery Dissection; SCAD

• Registration Number: NCT01427179
• Lead Sponsor: Mayo Clinic

Brief Summary

The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause spontaneous coronary artery dissection (SCAD), in other words, spontaneous tears in blood vessels that supply the heart.

Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person.

Detailed Description

Study question: Do mutations within certain genes cause or confer susceptibility to spontaneous coronary artery dissection (SCAD)?

Specific aims:

1. Create a genomic DNA and plasma biobank for individuals diagnosed with SCAD.

2. Identify inherited and de novo/new mutations that underlie SCAD.

3. Identify common genetic variants that confer risk for SCAD.

Long term objective:Discover molecular and cellular mechanisms of SCAD and develop biomarkers to enable prediction and prevention.

The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause tears in blood vessels that supply the heart. Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person. The study includes individuals diagnosed with spontaneous coronary artery dissection, their biological parents, and relatives with fibromuscular dysplasia, arterial aneurysm, or arterial dissection.

Adults with SCAD will be identified both retrospectively and prospectively.Confirmation of the diagnosis by review of coronary angiography will be required before proceeding with the informed consent process and blood or saliva sample procurement.

Study Timeline

• Study Start: 2011-05
• Study First Submitted: 2011-08-30
• Study First Submitted QC: 2011-08-30
• Study First Posted: 2011-09-01
• Status Verified: 2024-03
• Last Update Submitted: 2024-03-11
• Last Update Posted: 2024-03-12
• Primary Completion: 2028-12
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

• Men and women able to give informed consent and complete a 2 page questionnaire
• Diagnosis of one or more episodes of spontaneous coronary artery dissection (SCAD)
• Biological parent of individual with SCAD
• Relative with fibromuscular dysplasia, arterial aneurysm, or arterial dissection

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Exclusion Criteria

• Lack of confirmation of SCAD diagnosis

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of one or more gene mutation responsible for SCAD	By end of study	Via GWAS and whole exome sequencing

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States