Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy (VPCA)
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|ClinicalTrials.gov Identifier: NCT03293134|
Recruitment Status : Completed
First Posted : September 26, 2017
Last Update Posted : September 26, 2017
As principal objective, the study aims to:
- Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax;
- Establish the physiopathological basis of Fowler's syndrome;
- Identify FLVCR2 partners and the signaling pathways involved;
- 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.
|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||25 participants|
|Official Title:||Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy|
|Actual Study Start Date :||July 8, 2013|
|Actual Primary Completion Date :||March 9, 2015|
|Actual Study Completion Date :||October 6, 2016|
- Morphological analysis [ Time Frame: 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)
- Identification of novel disease [ Time Frame: 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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03293134
|Hôpital Necker Enfants Malades, APHP|
|Paris, France, 75006|
|Principal Investigator:||Tania Attié-Bitach, MD, PhD||Hôpital Necker Enfants Malades, APHP|