Cervical Artery Dissection, Fibromuscular Dysplasia, Spontaneous Coronary Artery Dissection
Conditions
Keywords
Cross-sectional study, Fibromuscular dysplasia, Fibroblast, Spontaneous Coronary Artery Dissection, Cervical Artery Dissection
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.
Interventions
None listed
Sponsors
Icahn School of Medicine at Mount Sinai
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of regulatory gene networks | single time point at study enrollment | The identification of regulatory gene networks, and their key drivers, underlying FMD, SCAD and CvAD |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of molecular features | single time point at study enrollment | To cross-compare the molecular features of FMD, SCAD and CvAD |
| Identification of genomic features | single time point at study enrollment | To cross-compare the genomic features of FMD, SCAD and CvAD |
| RNA sequencing | single time point at study enrollment | To define and compare the genomic (RNA sequencing) profile of fibroblasts from FMD, SCAD and CvAD subjects versus healthy control subjects |
| Circulating cytokine | single time point at study enrollment | To define and compare the circulating cytokine profile of FMD versus healthy control subjects. |
Countries
United States
Contacts
CONTACTJason Kovacic, MD, PhD
CONTACTJeffrey Olin, DO
PRINCIPAL_INVESTIGATORJason Kovacic, MD, PhD
Icahn School of Medicine at Mount Sinai
PRINCIPAL_INVESTIGATORJeffrey Olin, DO
Icahn School of Medicine at Mount Sinai
Outcome results
None listed