Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03293134

Acronym

VPCA

Enrollment

Registered

2017-09-26

Start date

2013-07-08

Completion date

2016-10-06

Last updated

2017-09-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Proliferative Vasculopathy

Keywords

Fowler syndrome

Brief summary

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Morphological analysis	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

Measure	Time frame	Description
Identification of novel disease	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.

Countries

France

Outcome results