Actively Recruiting

Age: 18Years +
All Genders
Healthy Volunteers
ID01967511

Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study

Led by Icahn School of Medicine at Mount Sinai · Updated on 2025-09-29

600

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying Fibromuscular Dysplasia (FMD), Spontaneous Coronary Artery Dissection (SCAD), and Cervical Artery Dissection (CvAD) to better understand the biological mechanisms behind these related artery disorders. The study aims to compare the molecular, genetic, and functional profiles of these diseases by analyzing fibroblasts and other biological samples from patients and healthy individuals. This research expands on earlier work by including a comprehensive systems genetics approach to reveal key gene networks involved in these conditions. Participants include individuals diagnosed with FMD, SCAD, or CvAD as well as healthy controls matched by age and gender. The study collects fibroblasts, DNA, plasma, and serum samples to create a library for detailed molecular and genomic analysis. The research involves a one-time collection and analysis of these samples to identify regulatory gene networks and molecular features associated with the diseases. During the study, participants provide informed consent and undergo sample collection at enrollment. Researchers perform RNA sequencing and measure circulating cytokines to understand gene regulation and disease drivers. The primary measurement is the identification of key regulatory gene networks at the time of enrollment. The study also monitors molecular and genomic features to cross-compare these artery conditions. Participation involves a single visit for data and sample collection with no ongoing treatment or follow-up required.

CONDITIONS

Brief Title

Defining the Basis of Fibromuscular Dysplasia (FMD)

Who Can Participate

Age: 18Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients of any age willing to participate, with parental consent required for those under 18
  • Fluency in English or Spanish
  • Signed informed consent
  • Clinical diagnosis of Fibromuscular Dysplasia, Spontaneous Coronary Artery Dissection, or Cervical Artery Dissection meeting standard criteria for patient groups
  • Healthy controls must have no clinical features of these disorders or major systemic diseases and be matched by gender and age to patient participants
Not Eligible

You will not qualify if you...

  • Co-morbidities reducing life expectancy to one year
  • History of solid organ or hematological transplantation or consideration for transplantation
  • Active autoimmune disease
  • Illicit drug use
  • HIV positive status
  • Prior malignancy
  • Other forms of vascular disease including coronary artery disease or peripheral vascular disease
  • Family history of arteriopathy other than Fibromuscular Dysplasia, Spontaneous Coronary Artery Dissection, or Cervical Artery Dissection such as Ehlers-Danlos syndrome

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - Single time point at study enrollment

Participants undergo assessments to collect fibroblasts, DNA, plasma, and serum samples for molecular and genomic analysis.

1 visit (in-person)

Trial Site Locations

Total: 1 location

1

Icahn School of Medicine at Mount Sinai

New York, New York, United States, 10029

Actively Recruiting

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Research Team

J

Jason Kovacic, MD, PhD

J

Jeffrey Olin, DO

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

4

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Published Research Related To This Trial

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

Soto Romuald Kiando, Nathan R Tucker, Luis-Jaime Castro-Vega...

https://pubmed.ncbi.nlm.nih.gov/27792790