Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

Assistance Publique - Hôpitaux de Paris25 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Proliferative Vasculopathy

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Locations (1)

Hôpital Necker Enfants Malades, APHP

Paris, France

Outcomes

Primary Outcomes

Morphological analysis

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)

Time frame: throughout the study: 36 months

Secondary Outcomes

Identification of novel disease

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.

Time frame: throughout the study: 36 months

Data from ClinicalTrials.gov

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