Trial record 2 of 4 for:    Fibromuscular Dysplasia

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by Mount Sinai School of Medicine
Sponsor:
Information provided by (Responsible Party):
Mount Sinai School of Medicine
ClinicalTrials.gov Identifier:
NCT01967511
First received: October 18, 2013
Last updated: January 2, 2014
Last verified: January 2014
  Purpose

The purpose of this study is to establish the functional, molecular and genetic profile of fibroblasts from Fibromuscular Dysplasia (FMD) patients. This cellular profile will be compared against the profile of fibroblasts obtained from age- and gender-matched healthy control subjects. This cellular data will be supplemented by a detailed clinical history and evaluation, assessment of circulating protein and cytokine levels in FMD versus healthy control subjects, and DNA sequencing aiming to define the causative genetic mutation(s).


Condition
Fibromuscular Dysplasia

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

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

Primary Outcome Measures:
  • Fibroblasts phenotype [ Time Frame: single time point at study enrollment ] [ Designated as safety issue: No ]
    Phenotypic characterization of fibroblasts from FMD patients versus healthy controls


Secondary Outcome Measures:
  • DNA sequencing [ Time Frame: single time point at study enrollment ] [ Designated as safety issue: No ]
    To define and compare the genetic (DNA sequencing) profile of FMD versus healthy control subjects

  • Circulating cytokine [ Time Frame: single time point at study enrollment ] [ Designated as safety issue: No ]
    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: 200
Study Start Date: October 2013
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
FMD subjects
patients who fulfill standard diagnostic criteria for FMD
Healthy control subjects
preferably healthy relative of FMD patient

Detailed Description:

Specific aims

  • Specific aim 1: To establish a library of fibroblasts, DNA, plasma and serum from patients with FMD and unaffected healthy control subjects.
  • Specific aim 2: To compare the in vitro characteristics of fibroblasts from FMD patients and healthy control subjects.
  • Specific aim 3: To define and compare the genetic (DNA sequencing) and circulating cytokine profile of FMD versus healthy control subjects.
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Will enroll up to 200 FMD patients and controls at the Mount Sinai Hospital. 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 subjects - a clinical diagnosis of FMD, with fulfillment of standard diagnostic criteria.
  • For healthy controls - no clinical features of FMD, 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 coronary artery disease or peripheral vascular disease
  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 212-241-4059 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
Mount Sinai School of Medicine
Investigators
Principal Investigator: Jason Kovacic, MD, PhD Mount Sinai School of Medicine
Principal Investigator: Jeffrey Olin, DO Mount Sinai School of Medicine
  More Information

No publications provided

Responsible Party: Mount Sinai School of Medicine
ClinicalTrials.gov Identifier: NCT01967511     History of Changes
Other Study ID Numbers: GCO 13-1118
Study First Received: October 18, 2013
Last Updated: January 2, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Mount Sinai School of Medicine:
Cross-sectional study
Fibromuscular dysplasia
Fibroblast
FMD

Additional relevant MeSH terms:
Fibromuscular Dysplasia
Arterial Occlusive Diseases
Vascular Diseases
Cardiovascular Diseases

ClinicalTrials.gov processed this record on August 27, 2014