Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

Proliferative Vasculopathy Clinical Trial

— VPCA  

Official title:

Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03293134
• Other study ID #: NI11031
• Status: Completed
• Phase: N/A
• First received: May 2, 2017
• Last updated: September 21, 2017
• Start date: July 8, 2013
• Est. completion date: October 6, 2016

Study information

• Verified date: March 2017
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. completion date: October 6, 2016
• Est. primary completion date: March 9, 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Proliferative Vasculopathy
• Vascular Diseases

Locations

Country	Name	City	State
France	Hôpital Necker Enfants Malades, APHP	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (1)

Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, G — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)	throughout the study: 36 months
Secondary	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.	throughout the study: 36 months