Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

Spontaneous Coronary Artery Dissection Clinical Trial

Official title:

Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT01427179
• Other study ID #: 11-000160
• Status: Enrolling by invitation
• Start date: May 2011
• Est. completion date: December 2030

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 2000
• Est. completion date: December 2030
• Est. primary completion date: December 2028
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Exclusion Criteria:

• Lack of confirmation of SCAD diagnosis

Related Conditions & MeSH terms

• Aortic Dissection
• Coronary Vessel Anomalies
• SCAD
• Spontaneous Coronary Artery Dissection
• Vascular Diseases

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

References & Publications (9)

Adlam D, Berrandou TE, Georges A, Nelson CP, Giannoulatou E, Henry J, Ma L, Blencowe M, Turley TN, Yang ML, Chopade S, Finan C, Braund PS, Sadeg-Sayoud I, Iismaa SE, Kosel ML, Zhou X, Hamby SE, Cheng J, Liu L, Tarr I, Muller DWM, d'Escamard V, King A, Bru — View Citation

Adlam D, Olson TM, Combaret N, Kovacic JC, Iismaa SE, Al-Hussaini A, O'Byrne MM, Bouajila S, Georges A, Mishra K, Braund PS, d'Escamard V, Huang S, Margaritis M, Nelson CP, de Andrade M, Kadian-Dodov D, Welch CA, Mazurkiewicz S, Jeunemaitre X; DISCO Conso — View Citation

Goel K, Tweet M, Olson TM, Maleszewski JJ, Gulati R, Hayes SN. Familial spontaneous coronary artery dissection: evidence for genetic susceptibility. JAMA Intern Med. 2015 May;175(5):821-6. doi: 10.1001/jamainternmed.2014.8307. — View Citation

Hayes SN, Kim ESH, Saw J, Adlam D, Arslanian-Engoren C, Economy KE, Ganesh SK, Gulati R, Lindsay ME, Mieres JH, Naderi S, Shah S, Thaler DE, Tweet MS, Wood MJ; American Heart Association Council on Peripheral Vascular Disease; Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Genomic and Precision Medicine; and Stroke Council. Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association. Circulation. 2018 May 8;137(19):e523-e557. doi: 10.1161/CIR.0000000000000564. Epub 2018 Feb 22. — View Citation

Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, Olson TM, Hayes SN. Spontaneous coronary artery dissection and its association with heritable connective tissue disorders. Heart. 2016 Jun 1;102(11):876-81. doi: 10.1136/heartjnl-2015-308645. Epub 2016 Feb 10. — View Citation

Turley TN, Kosel ML, Bamlet WR, Gulati R, Hayes SN, Tweet MS, Olson TM. Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2021 Aug;14(4):e003398. doi: 10.1161/CIRCGEN.121.003398. Epub 2021 Aug 13. — View Citation

Turley TN, O'Byrne MM, Kosel ML, de Andrade M, Gulati R, Hayes SN, Tweet MS, Olson TM. Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection. JAMA Cardiol. 2020 Aug 1;5(8):929-938. doi: 10.1001/jamacardio.2020.0872. — View Citation

Turley TN, Theis JL, Sundsbak RS, Evans JM, O'Byrne MM, Gulati R, Tweet MS, Hayes SN, Olson TM. Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2019 Apr;12(4):e002437. — View Citation

Tweet MS, Gulati R, Aase LA, Hayes SN. Spontaneous coronary artery dissection: a disease-specific, social networking community-initiated study. Mayo Clin Proc. 2011 Sep;86(9):845-50. doi: 10.4065/mcp.2011.0312. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of one or more gene mutation responsible for SCAD	Via GWAS and whole exome sequencing	By end of study

External Links

•   Patient information on spontaneous coronary artery dissection