Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study

Completed

• Conditions: Fibromuscular Dysplasia; Renal Artery Stenosis
• Interventions: Procedure: tissue of adjacent part and aneurysm of renal aneurysm; Other: blood sample

• Registration Number: NCT02528149
• Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne

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 Description

Not available

Study Timeline

• Study Start: 2013-09
• Primary Completion: 2014-12
• Study Completion: 2014-12
• Status Verified: 2015-08
• Study First Submitted: 2015-08-18
• Study First Submitted QC: 2015-08-18
• Last Update Submitted: 2015-08-18
• Study First Posted: 2015-08-19
• Last Update Posted: 2015-08-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 34

Inclusion Criteria

• Patients with one or more Renal artery aneurysm (RAA), not eligible for endovascular treatment, have been operated at the Hospital of Saint-Etienne, with tissue (adjacent part and aneurysm) cryopreserved in liquid nitrogen in renal lab and then sent in genetic lab in Georges Pompidou European Hospital (EHGP ).
• Patient (or parent/person having parental authority) Affiliate or entitled to a social security scheme.
• Signature of patient consent (or parents or holder of parental authority)

Exclusion Criteria

• Patient not included in the tissue collection in Georges Pompidou European Hospital (EHGP ).
• Patient refusing to participate in the study and / or genetic analysis or, for juvenile patients, parents or holder of parental authority refusing the minor patient to be involved in the study and / or genetic analysis.
• Patient with FMD whose samples in the tissue collection did not concern aneurysm.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with renal aneurysm	blood sample	Patient with one or more renal artery aneurysm (RAA) operated and with tissue; adjacent part and aneurysm; cryopreserved. Blood sample performed at day 1.
patients with renal aneurysm	tissue of adjacent part and aneurysm of renal aneurysm	Patient with one or more renal artery aneurysm (RAA) operated and with tissue; adjacent part and aneurysm; cryopreserved. Blood sample performed at day 1.

Primary Outcome Measures

Name	Time	Method
anatomopathological characteristics of renal aneurysms	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.

Secondary Outcome Measures

Name	Time	Method
genetic markers in blood samples	day 1	identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia
genetic markers in aneurysm tissue	day 1	identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia

Trial Locations

Locations (17)

CH Henri Mondor; 🇫🇷 Aurillac, France

CH Louis Pasteur; 🇫🇷 Bagnols sur Cèze, France

CHU Saint-Jacques; 🇫🇷 Besançon, France

Groupe Hospitalier Pellegrin; 🇫🇷 Bordeaux, France

Clinique Saint-Germain; 🇫🇷 Brive-La-Gaillarde, France

Centre Hospitalier A. Gayraud; 🇫🇷 Carcassonne, France

CH W. Morey; 🇫🇷 Chalon sur Saone, France

Hôpital Gabriel Montpied; 🇫🇷 Clermont-Ferrand, France

CH Emile Roux; 🇫🇷 Le Puy en Velay, France

Hôpital Jeanne de Flandre; 🇫🇷 Lille, France

Hôpital de la mère et de l'enfant; 🇫🇷 Limoges, France

Hôpital Robert Schuman; 🇫🇷 Metz, France

Hôpital Lapeyronie; 🇫🇷 Montpellier, France

CHU Nantes; 🇫🇷 Nantes, France

CH Niort; 🇫🇷 Niort, France

CHRU Tours; 🇫🇷 Tours, France

Hôpital Européen Georges Pompidou; 🇫🇷 Paris, France