Official Title
Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study
Brief Title
Defining the Basis of Fibromuscular Dysplasia (FMD)
Protocol ID
NCT01967511
Lead Sponsor
Icahn School of Medicine at Mount Sinai
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.
Detailed 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 Count
600 participants
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 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)
Filters
Fibromuscular Dysplasia
Spontaneous Coronary Artery Dissection
Cervical Artery Dissection
RECRUITING
ADULT
OLDER_ADULT