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OpenTrials
Completed

NCT Number: NCT03293134

Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

As principal objective, the study aims to:

1. Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax; 2. Establish the physiopathological basis of Fowler's syndrome; 3. Identify FLVCR2 partners and the signaling pathways involved; 4. Test new candidate genes: GPR124 and possible partners of FLVCR2.

As second objective, the study aims to:

* perform phenotype / genotype correlation if necessary; * and propose a prenatal diagnosis in families with identified mutations.

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Key information

Conditions

Proliferative Vasculopathy Fowler Christmas Chapple syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Necker Enfants Malades, APHP

Paris, 75006, France

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Angiodysplasia restricted to central nervous system with or without glomerular vasculopathy.
  • Informed consent signed.

Exclusion criteria

  • Vascular malformations not confined to the nevrax.
  • No signature of consent.

Treatment and study plan

Primary outcomes

  1. Morphological analysis

    Time frame: throughout the study: 36 months

    Morphological analysis : characterisation of cellular lesions by immunolabelling with endothelial markers such as CD34 and CD31, pericytic markers (smooth muscle actin and proteoglycan NG2) and astrocytic markers (GFAP)

Secondary outcomes

  1. Identification of novel disease

    Time frame: throughout the study: 36 months

    Identification of novel disease causing genes in addition to FLVCR2 by whole exome sequencing.

    Fetus with clinical VPCA and no FLVCR2 mutation found by Sanger sequencing, will be studied by whole exome sequencing in order to find mutation in other genes that could explain the phenotype.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: VPCA

Important dates

Study start
2013
Primary completion
2015
Study completion
2016
First posted
Sep 26, 2017
Registry last updated
Sep 26, 2017

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

View the official ClinicalTrials.gov record (opens in a new tab)

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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