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Completed

NCT Number: NCT02528149

Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study

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.

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Key information

Age range

15 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CH Henri Mondor, Aurillac, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

tissue of adjacent part and aneurysm of renal aneurysm

Procedure

the samples are collected during surgery of renal artery aneurysms. Th tissue is cryopreserved in liquid nitrogen before analysis

blood sample

Other

Primary outcomes

  1. 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.

Secondary outcomes

  1. genetic markers in blood samples

    Time frame: day 1

    identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia

  2. genetic markers in aneurysm tissue

    Time frame: day 1

    identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne

Other

Registry information

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Aug 19, 2015
Registry last updated
Aug 19, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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