Genetics of Spontaneous Coronary Artery Dissection (SCAD-INSPIRE Genetics)

NCT03876847 | Enrolling By Invitation

• 1 other identifier: 1050343
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief Summary

Spontaneous coronary artery dissection (SCAD) is a rare cause of coronary ischemia and infarction where a tear in blood vessel wall either restricts the flow of blood or the blood becomes trapped in between the layers of the vessel causing the vessel to impinge on the lumen and causing an obstruction or restriction of blood flow. The ultimate goal of this proposal is to further understand the risk factors leading to SCAD with a focus on familial and genetic causes of SCAD.

Conditions

Spontaneous Coronary Artery Dissection

Outcome Measures

Primary Outcomes (1)

• Genetic variants

  To determine genetic variants among spontaneous coronary artery dissection (SCAD) patients, we will do genotyping including target sequencing and whole exome/genome sequencing on samples provided by SCAD patients. The primary focus of this sequencing will be to determine rates of variants in genes that cause cardiac-related connective tissue disorders.

  at enrollment

Study Arms (2)

Spontaneous Coronary Artery Disection

The spontaneous coronary artery disection (SCAD) diagnosis will be based on independent review of clinical presentation, cardiac imaging, and angiography findings by three cardiologists. The determination will be evidence of linear luminal defect (intimal flap) detection, luminal narrowing or occlusion confirmed to be a dissection on further imaging, or by clinical judgment classifying it as definite SCAD.

Control

A set of controls will be used for genetic analysis. These controls will pulled from subjects in the INSPIRE registry that had coronary angiography at Intermountain Medical Center for stable angina and meet inclusion/exclusion criteria.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population will be Intermountain Healthcare patients. The case subjects will be SCAD patients and the control population for the genetics will be Intermountain angiography patients without SCAD.

You may qualify if:

• SCAD Cases
• Subjects of all ages, gender, or race
• Subjects had coronary angiography.
• Subjects had suspected SCAD as based on clinical report.
• Controls
• INSPIRE subject that had coronary angiography at Intermountain Healthcare for stable angina.
• Subjects had no or mild atherosclerotic heart disease at time of angiography.
• Age at last visit as recorded in the Intermountain EDW at least 50 years or older.
• Not screened as possibly having a SCAD or coronary artery dissection diagnosis.

You may not qualify if:

• SCAD Cases
• Independent review of cardiac imaging and clinical presentation by three cardiologists determine the coronary angiography was not a result of SCAD.
• Imaging from time of coronary angiography of poor quality as to not allow for proper determination of SCAD.
• Inability to determine criteria as outlined above.
• Subjects that have had a heart transplant.
• Subjects that have had a bone marrow transplant.
• Inability or refusal of the patient and/or the patient's legally acceptable representative to provide informed consent or blood sample for any reason.
• Other conditions that in the opinion of the Principal Investigator may increase risk to the subject and/or compromise the quality of the trial.
• Controls
• Subjects that have a heart transplant.
• Subjects that have a bone marrow transplant.
• Subjects with any of the following diagnosis at anytime
• Heart failure
• Heart valve disease
• Thoracic aortic aneurysm and dissection

Sponsors & Collaborators

• Intermountain Health Care, Inc.: lead

Biospecimen

Retention: SAMPLES WITH DNA

saliva, buccal swab, or blood sample kit

MeSH Terms

Conditions

Coronary Artery Dissection, Spontaneous

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2019
• First Posted: March 15, 2019
• Study Start: October 17, 2016
• Primary Completion (Estimated): December 31, 2036
• Study Completion (Estimated): December 31, 2036
• Last Updated: April 14, 2026

Record last verified: 2026-04