Defining the Basis of Fibromuscular Dysplasia (FMD) (DEFINE)

Mount Sinai Health System

Status

Enrolling

Conditions

Cervical Artery Dissection

Fibromuscular Dysplasia

Spontaneous Coronary Artery Dissection

Study type

Observational

Funder types

Other

Identifiers

NCT01967511

GCO 13-1118

Details and patient eligibility

About

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.

Full description

Specific aims

Specific aim 1: To establish a library of fibroblasts, DNA, plasma and serum from patients with FMD, SCAD and CvAD and unaffected healthy control subjects.
Specific aim 2: To perform a fully powered cross-tissue systems analysis of the key regulatory gene networks and disease drivers underlying FMD, SCAD and CvAD.
Specific aim 3: To cross-compare the molecular and genomic profiles of FMD, SCAD and CvAD to establish the degree of biologic similarity among these disorders.

Enrollment

600 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

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)