Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy (VPCA)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Proliferative Vasculopathy

Study type: Observational

Funder types: Other

Identifiers

NCT03293134

NI11031

Details and patient eligibility

About

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.

Enrollment: 25 patients

Sex: All

Volunteers: No 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.