Clinical Trial: Defining the Basis of Fibromuscular Dysplasia (FMD)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study

Brief Summary: 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).

Detailed Summary:

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.

Sponsor: Icahn School of Medicine at Mount Sinai

Current Primary Outcome: Fibroblasts phenotype [ Time Frame: single time point at study enrollment ]

Phenotypic characterization of fibroblasts from FMD patients versus healthy controls


Original Primary Outcome: Same as current

Current Secondary Outcome:

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


Original Secondary Outcome: Same as current

Information By: Icahn School of Medicine at Mount Sinai

Dates:
Date Received: October 18, 2013
Date Started: October 2013
Date Completion: December 2018
Last Updated: August 3, 2016
Last Verified: August 2016