Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Adrien Georges, Juliette Albuisson, Takiy Berrandou...
https://pubmed.ncbi.nlm.nih.gov/32531060/Actively Recruiting
Led by Icahn School of Medicine at Mount Sinai · Updated on 2026-06-24
600
Participants Needed
1
Research Sites
N/A
Total Duration
Researchers are investigating the biological mechanisms behind Fibromuscular Dysplasia FMD and related artery disorders, including Spontaneous Coronary Artery Dissection SCAD and Cervical Artery Dissection CvAD. The study aims to compare molecular and genetic profiles across these conditions to understand their similarities and differences. Initially focused on fibroblast profiles, the research has expanded to a comprehensive cross-tissue genetic analysis to uncover key disease drivers. Participants include patients diagnosed with FMD, SCAD, or CvAD, as well as healthy control subjects without these conditions. The study collects samples such as fibroblasts, DNA, plasma, and serum from all groups. Researchers perform detailed molecular and genomic analyses, including RNA sequencing and cytokine measurements, to identify regulatory gene networks and molecular features related to these artery disorders. During the study, participants provide samples at a single enrollment visit for laboratory analysis. The research team measures gene networks, molecular and genomic characteristics, and circulating cytokines from these samples. Healthy controls are carefully matched to patient groups by age and gender. The study is observational and continues until December 2030, with no interventions administered to participants.
CONDITIONS
Defining the Basis of Fibromuscular Dysplasia (FMD)
J
Jason Kovacic, MD, PhD
J
Jeffrey Olin, DO
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Icahn School of Medicine at Mount Sinai
Lead Sponsor
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Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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https://pubmed.ncbi.nlm.nih.gov/31424497/Icahn School of Medicine at Mount Sinai
Lead Sponsor