Defining the Basis of Fibromuscular Dysplasia (FMD)

Description

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

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Study Overview

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Study Details

Study overview

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.

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

Defining the Basis of Fibromuscular Dysplasia (FMD)

Condition
Fibromuscular Dysplasia
Intervention / Treatment

-

Contacts and Locations

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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).
  • * 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)

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Icahn School of Medicine at Mount Sinai,

Jason Kovacic, MD, PhD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Jeffrey Olin, DO, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Study Record Dates

2025-12