Understanding Fibromuscular Dysplasia and Related Arteriopathies
Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study
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 |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT01967511 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
New York, New York
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.