Defining the Basis of Fibromuscular Dysplasia (FMD) (DEFINE)
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).
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study|
- 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
- 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).
|Study Start Date:||October 2013|
|Estimated Study Completion Date:||December 2015|
|Estimated Primary Completion Date:||December 2015 (Final data collection date for primary outcome measure)|
patients who fulfill standard diagnostic criteria for FMD
Healthy control subjects
preferably healthy relative of FMD patient
- 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01967511
|Contact: Jason Kovacic, MD, PhDfirstname.lastname@example.org|
|Contact: Jeffrey Olin, DOemail@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator: Jason Kovacic, MD, PhD|
|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|