Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

NCT ID: NCT01427179

Last Updated: 2025-03-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-05-31

Study Completion Date

2030-12-31

Brief Summary

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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

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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.

Conditions

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Spontaneous Coronary Artery Dissection SCAD

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Sharonne Hayes

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Sharonne N. Hayes, M.D.

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic

Rochester, Minnesota, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 21878595 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29472380 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25798899 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 26864667 (View on PubMed)

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 Consortium; Wong CMY, Giannoulatou E, Sweeting M, Muller D, Wood A, McGrath-Cadell L, Fatkin D, Dunwoodie SL, Harvey R, Holloway C, Empana JP, Jouven X; CARDIoGRAMPlusC4D Study Group; Olin JW, Gulati R, Tweet MS, Hayes SN, Samani NJ, Graham RM, Motreff P, Bouatia-Naji N. Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection. J Am Coll Cardiol. 2019 Jan 8;73(1):58-66. doi: 10.1016/j.jacc.2018.09.085.

Reference Type BACKGROUND
PMID: 30621952 (View on PubMed)

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. doi: 10.1161/CIRCGEN.118.002437. Epub 2019 Mar 19.

Reference Type BACKGROUND
PMID: 30888838 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 32374345 (View on PubMed)

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, Brunham LR, Baranowska-Clarke AA, Debette S, Amouyel P, Olin JW, Patil S, Hesselson SE, Junday K, Kanoni S, Aragam KG, Butterworth AS; CARDIoGRAMPlusC4D; MEGASTROKE; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; Tweet MS, Gulati R, Combaret N; DISCO register; Kadian-Dodov D, Kalman JM, Fatkin D, Hingorani AD, Saw J, Webb TR, Hayes SN, Yang X, Ganesh SK, Olson TM, Kovacic JC, Graham RM, Samani NJ, Bouatia-Naji N. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Nat Genet. 2023 Jun;55(6):964-972. doi: 10.1038/s41588-023-01410-1. Epub 2023 May 29.

Reference Type BACKGROUND
PMID: 37248441 (View on PubMed)

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. No abstract available.

Reference Type BACKGROUND
PMID: 34384238 (View on PubMed)

Kok SN, Hayes SN, Cutrer FM, Raphael CE, Gulati R, Best PJM, Tweet MS. Prevalence and Clinical Factors of Migraine in Patients With Spontaneous Coronary Artery Dissection. J Am Heart Assoc. 2018 Dec 18;7(24):e010140. doi: 10.1161/JAHA.118.010140.

Reference Type DERIVED
PMID: 30561271 (View on PubMed)

Related Links

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Other Identifiers

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11-000160

Identifier Type: -

Identifier Source: org_study_id

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