Defining the Basis of Fibromuscular Dysplasia (FMD)

NCT01967511 | Recruiting

• 1 other identifier: GCO 13-1118
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study has evolved and expanded since its inception. Originally the intent was to establish the functional, molecular and genetic profile of fibroblasts from Fibromuscular Dysplasia (FMD) patients as compared to carefully matched control subjects. While this remains among the objectives, the study has been expanded to undertake a fully powered cross-tissue systems genetics analysis of FMD, and now also the related arteriopathies spontaneous coronary artery dissection (SCAD) and cervical artery dissection (CvAD). The overall objective is to disclose the core biologic mechanisms of these disorders.

Conditions

Fibromuscular Dysplasia; Spontaneous Coronary Artery Dissection; Cervical Artery Dissection

Keywords

Cross-sectional study; Fibromuscular dysplasia; Fibroblast; Spontaneous Coronary Artery Dissection; Cervical Artery Dissection

Outcome Measures

Primary Outcomes (1)

• Identification of regulatory gene networks

  The identification of regulatory gene networks, and their key drivers, underlying FMD, SCAD and CvAD

  single time point at study enrollment

Secondary Outcomes (4)

• Identification of molecular features

  single time point at study enrollment

• Identification of genomic features

  single time point at study enrollment

• RNA sequencing

  single time point at study enrollment

• Circulating cytokine

  single time point at study enrollment

Study Arms (4)

FMD subjects

patients who fulfill standard diagnostic criteria for FMD

SCAD subjects

patients who fulfill standard diagnostic criteria for SCAD

CvAD subjects

patients who fulfill standard diagnostic criteria for CvAD

Healthy control subjects

Eligibility Criteria

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

Study Population

Will enroll 200 FMD patients, 100 SCAD patients, and 100 CvAD patients at the Mount Sinai Hospital. 200 matched healthy controls will also be recruited to this study.

You may qualify if:

• Patients of any age and freely willing to participate. For patients \< 18 years of age consent will be via parents.
• Fluency in either English or Spanish.
• Signed, informed consent
• For FMD, SCAD or CvAD subjects - a clinical diagnosis of FMD, SCAD or CvAD with fulfillment of standard diagnostic criteria.
• For healthy controls - no clinical features of FMD, SCAD or CvAD and absence of any major ongoing systemic disease including any condition requiring hospitalization, immune suppression, intravenous or injected medications or that result in functional impairment in the performance of activities of daily living. Healthy controls will be matched to enrolled FMD patients on the basis of gender and approximate age (within a 5 year window of another FMD subject).

You may not qualify if:

• Patients who have co-morbidities which reduces life expectancy to one year.
• Patients with any solid organ or hematological transplantation, or those in whom transplantation is considered.
• Active autoimmune disease.
• Illicit drug use.
• HIV positive.
• Prior malignancy.
• Any other form of vascular disease, including other arteriopathy coronary artery disease or peripheral vascular disease
• Family history of arteriopathy other than FMD, SCAD or CvAD (e.g. Ehlers-Danlos syndrome)

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

Related Publications (4)

• Olin JW, Di Narzo AF, d'Escamard V, Kadian-Dodov D, Cheng H, Georges A, King A, Thomas A, Barwari T, Michelis KC, Bouchareb R, Bander E, Anyanwu A, Stelzer P, Filsoufi F, Florman S, Civelek M, Debette S, Jeunemaitre X, Bjorkegren JLM, Mayr M, Bouatia-Naji N, Hao K, Kovacic JC. A plasma proteogenomic signature for fibromuscular dysplasia. Cardiovasc Res. 2020 Jan 1;116(1):63-77. doi: 10.1093/cvr/cvz219.

  PMID: 31424497 RESULT

• Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Treard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct.

  PMID: 27792790 RESULT

• 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.

  PMID: 30621952 RESULT

• Georges A, Albuisson J, Berrandou T, Dupre D, Lorthioir A, D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chedid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia. Cardiovasc Res. 2021 Mar 21;117(4):1154-1165. doi: 10.1093/cvr/cvaa161.

  PMID: 32531060 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Fibroblasts and other cell lines generated under this protocol and all blood-derived specimens (plasma, serum, DNA) will be kept indefinitely in a secure clinical database or bio-repository (as appropriate).

MeSH Terms

Conditions

Fibromuscular Dysplasia; Coronary Artery Dissection, Spontaneous

Condition Hierarchy (Ancestors)

Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Jason Kovacic, MD, PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Jeffrey Olin, DO

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jason Kovacic, MD, PhD

CONTACT

212-241-7014; jason.kovacic@mountsinai.org

Jeffrey Olin, DO

CONTACT

jeffrey.olin@mountsinai.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Cardiology

Study Record Dates

• First Submitted: October 18, 2013
• First Posted: October 23, 2013
• Study Start: October 1, 2013
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: September 29, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share

Locations

US (1)