Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

Completed

• Conditions: Proliferative Vasculopathy

• Registration Number: NCT03293134
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-07-08
• Primary Completion: 2015-03-09
• Study Completion: 2016-10-06
• Status Verified: 2017-03
• Study First Submitted: 2017-05-02
• Study First Submitted QC: 2017-09-21
• Last Update Submitted: 2017-09-21
• Study First Posted: 2017-09-26
• Last Update Posted: 2017-09-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 25

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Hôpital Necker Enfants Malades, APHP; 🇫🇷 Paris, France