Clinical Trial: Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study

Brief Summary:

Fibromuscular dysplasia (FMD) is localized structural defects in the arterial wall, whose innate or acquired character is still unknown. This segmental non atheromatous injury, leads to stenosis of the arteries of small and medium caliber. Renal arteries are the most commonly affected with 60-75% of total fibrodysplasia. Three histological subtypes have been described: intimal, medial and peri-medial. They are not mutually exclusive and can be observed in the same patient.

This is a rare blood disease, occurring in children and young adults. In this young population with long life expectancy, these aneurysmal lesion are associated with 10% risk of rupture. To date, no data have shown in the literature that FMD is link to genetic causes, or if there is specific histopathologic lesions for non-atherosclerotic renal artery aneurysms.

To answer these questions, Cardiovascular Surgery Unit of the University Hospital of Saint-Etienne, French national reference center for renal artery surgery, in association with the Reference Center for Rare Vascular Disease in Paris, designed the first study for pathological and genetic characteristics of dysplastic renal artery aneurysms in young patients.


Detailed Summary:
Sponsor: Centre Hospitalier Universitaire de Saint Etienne

Current Primary Outcome: anatomopathological characteristics of renal aneurysms [ Time Frame: day 1 ]

Anatomopathological criteria is a composite outcome : Presence of a media thickness, the media disappearance zones, loss of smooth muscle cells (SMC) in the media with replacement by fibrosis, disorganization of SMC, aneurysms, dissections, discontinuity of the internal elastic lamina, and intimal thickening due to myointimal hyperplasia, abnormalities of proteins of the extracellular matrix.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • genetic markers in blood samples [ Time Frame: day 1 ]
    identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia
  • genetic markers in aneurysm tissue [ Time Frame: day 1 ]
    identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia


Original Secondary Outcome: Same as current

Information By: Centre Hospitalier Universitaire de Saint Etienne

Dates:
Date Received: August 18, 2015
Date Started: September 2013
Date Completion:
Last Updated: August 18, 2015
Last Verified: August 2015