Understanding Fibromuscular Dysplasia and Related Arteriopathies
Official title: Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study
Run by Icahn School of Medicine at Mount Sinai · NCT01967511 · Data updated 2026-11-12
This study is trying to collect samples from people with Fibromuscular Dysplasia and related conditions to see what genes might be involved in these diseases.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 600 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Status | Recruiting |
| Started | October 1, 2013 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | June 24, 2026 |
| Trial ID | NCT01967511 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals of any age with a clinical diagnosis of FMD, SCAD, or CvAD, as well as healthy controls matched by gender and age.
✕Probably not a fit
Patients with co-morbidities that significantly reduce life expectancy or those with solid organ or hematological transplants may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to establish a comprehensive library of biological samples from patients diagnosed with Fibromuscular Dysplasia (FMD), Spontaneous Coronary Artery Dissection (SCAD), and Cervical Artery Dissection (CvAD), alongside healthy control subjects. The study will conduct a cross-tissue systems genetics analysis to identify key regulatory gene networks and disease drivers associated with these conditions. By comparing the molecular and genomic profiles of these disorders, the research seeks to uncover the underlying biological mechanisms that contribute to their development.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of the biological mechanisms behind FMD and related conditions, potentially improving diagnosis and treatment options for patients.
How similar studies have gone: While this study builds on existing knowledge of FMD and related conditions, its comprehensive cross-tissue analysis approach is relatively novel and has not been extensively tested in prior studies.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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). Exclusion Criteria: * 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)
Where it's running
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Icahn School of Medicine at Mount Sinai
New York, New York, United States Recruiting
Study contacts
- Principal investigator: Jason Kovacic, MD, PhD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Jason Kovacic, MD, PhD
- Email: jason.kovacic@mountsinai.org
- Phone: 212-241-7014
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Survey of physical activity and quality of life for people with fibromuscular dysplasia
This national survey asks adults with fibromuscular dysplasia to see if activity restrictions affect their quality of life and emotional well-being.
-
Exercise responses in people with spontaneous coronary artery dissection or fibromuscular dysplasia
This study will test whether short sessions of different aerobic and resistance exercise change breathing, heart and blood pressure responses and symptoms in people with SCAD or FMD.
-
Observational study on spontaneous coronary artery dissection
This study is trying to learn more about spontaneous coronary artery dissection (SCAD) by following 3,000 patients over 10 years to better understand who it affects and how to treat it.
-
Stress contrast echocardiography in adults with prior SCAD
This project will use stress contrast echocardiography to see if small-vessel heart blood flow and blood-pressure responses during stress are different in adults who had spontaneous coronary artery dissection (SCAD) compared with healthy adults.
-
Remote exercise program after spontaneous coronary artery dissection
This study tests a remote exercise program to see if it’s doable for women recovering from SCAD events.
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Registry for Spontaneous Coronary Artery Dissection
This study is setting up a large registry to collect information from women who have experienced spontaneous coronary artery dissection to better understand the condition and improve treatment options.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.