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Recruiting NCT01967511

Defining the Basis of Fibromuscular Dysplasia (FMD)

Trial Parameters

Condition Fibromuscular Dysplasia
Sponsor Icahn School of Medicine at Mount Sinai
Study Type OBSERVATIONAL
Phase N/A
Enrollment 600
Sex ALL
Min Age 18 Years
Max Age N/A
Start Date 2013-10
Completion 2030-12

Brief Summary

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.

Eligibility 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 cons

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