Clinical Research Directory
Browse clinical research sites, groups, and studies.
Genes Modulating the Severity of Aortic Aneurysms (MSF1-TGFBR2)
Sponsor: French Cardiology Society
Summary
This project concerns a population at risk of sudden death by dissection of the thoracic aorta. Its interest is to make it possible to recognize the genes that protect or worsen the evolution of aneurysms, to better understand the mechanisms involved, to detect and treat aneurysms of the thoracic aorta, wich is a pathology that is completely silent clinically until life-threatening complications. The variability in the severity of the disease within the same family is related to modifier genes. The objective is to find the modifying factors that account for the variability in the severity of the progression of aneurysms of the thoracic aorta.
Key Details
Gender
All
Age Range
10 Years - Any
Study Type
OBSERVATIONAL
Enrollment
17
Start Date
2022-11-24
Completion Date
2025-11-30
Last Updated
2026-10-09
Healthy Volunteers
Not specified
Conditions
Interventions
TGFBR2
TGFBR2 mutation correlation with severity of the aortic disease. Blood sampling. Serum will be analysed by DNA sequencing to detect specific mutations involved in aneurysms. Cutaneous biopsy. Fibroblast culture will be done to assess the transcriptome analysis.
Locations (1)
Hopital Bichat-Claude Bernard
Paris, France