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

This study is currently recruiting participants.
See Contacts and Locations
Verified June 2017 by Icahn School of Medicine at Mount Sinai
Sponsor:
Information provided by (Responsible Party):
Icahn School of Medicine at Mount Sinai
ClinicalTrials.gov Identifier:
NCT01967511
First received: October 18, 2013
Last updated: June 6, 2017
Last verified: June 2017
  Purpose
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.

Condition
Fibromuscular Dysplasia Spontaneous Coronary Artery Dissection Cervical Artery Dissection

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study

Resource links provided by NLM:


Further study details as provided by Icahn School of Medicine at Mount Sinai:

Primary Outcome Measures:
  • Identification of regulatory gene networks [ Time Frame: single time point at study enrollment ]
    The identification of regulatory gene networks, and their key drivers, underlying FMD, SCAD and CvAD


Secondary Outcome Measures:
  • Identification of molecular features [ Time Frame: single time point at study enrollment ]
    To cross-compare the molecular features of FMD, SCAD and CvAD

  • Identification of genomic features [ Time Frame: single time point at study enrollment ]
    To cross-compare the genomic features of FMD, SCAD and CvAD

  • RNA sequencing [ Time Frame: 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 [ Time Frame: single time point at study enrollment ]
    To define and compare the circulating cytokine profile of FMD versus healthy control subjects.


Biospecimen Retention:   Samples With DNA
Fibroblasts and other cell lines generated under this protocol and all blood-derived specimens (plasma, serum, DNA) will be kept indefinitely in a secure clinical database or bio-repository (as appropriate).

Estimated Enrollment: 600
Study Start Date: October 2013
Estimated Study Completion Date: December 2019
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
FMD subjects
patients who fulfill standard diagnostic criteria for FMD
SCAD subjects
patients who fulfill standard diagnostic criteria for SCAD
CvAD subjects
patients who fulfill standard diagnostic criteria for CvAD
Healthy control subjects

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.
  Eligibility

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Will enroll 200 FMD patients, 100 SCAD patients, and 100 CvAD patients at the Mount Sinai Hospital. 200 matched healthy controls will also be recruited to this study.
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. Where possible, healthy controls will be unaffected family members. 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)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01967511

Contacts
Contact: Jason Kovacic, MD, PhD 212-241-7014 jason.kovacic@mountsinai.org
Contact: Jeffrey Olin, DO jeffrey.olin@mountsinai.org

Locations
United States, New York
Icahn School of Medicine at Mount Sinai Recruiting
New York, New York, United States, 10029
Contact: Annette King, ANP    212-241-9454    annette.king@mountsinai.org   
Principal Investigator: Jason Kovacic, MD, PhD         
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
Investigators
Principal Investigator: Jason Kovacic, MD, PhD Icahn School of Medicine at Mount Sinai
Principal Investigator: Jeffrey Olin, DO Icahn School of Medicine at Mount Sinai
  More Information

Responsible Party: Icahn School of Medicine at Mount Sinai
ClinicalTrials.gov Identifier: NCT01967511     History of Changes
Other Study ID Numbers: GCO 13-1118
Study First Received: October 18, 2013
Last Updated: June 6, 2017
Individual Participant Data  
Plan to Share IPD: Yes

Keywords provided by Icahn School of Medicine at Mount Sinai:
Cross-sectional study
Fibromuscular dysplasia
Fibroblast
Spontaneous Coronary Artery Dissection
Cervical Artery Dissection

Additional relevant MeSH terms:
Fibromuscular Dysplasia
Hyperplasia
Coronary Vessel Anomalies
Vascular Diseases
Aneurysm, Dissecting
Pathologic Processes
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Arterial Occlusive Diseases
Aneurysm

ClinicalTrials.gov processed this record on June 28, 2017