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Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy (VPCA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03293134
Recruitment Status : Completed
First Posted : September 26, 2017
Last Update Posted : September 26, 2017
Sponsor:
Information provided by (Responsible Party):
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.

Condition or disease
Proliferative Vasculopathy

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Study Type : Observational
Actual Enrollment : 25 participants
Observational Model: Other
Time Perspective: Other
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

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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)


Secondary Outcome Measures :
  1. 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
Whole blood, cells cultivated, extracted DNA and fetal tissue.


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.
Criteria

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.

Information from the National Library of Medicine

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


Locations
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France
Hôpital Necker Enfants Malades, APHP
Paris, France, 75006
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
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Principal Investigator: Tania Attié-Bitach, MD, PhD Hôpital Necker Enfants Malades, APHP

Publications of Results:
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT03293134    
Other Study ID Numbers: NI11031
First Posted: September 26, 2017    Key Record Dates
Last Update Posted: September 26, 2017
Last Verified: March 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Fowler syndrome
Additional relevant MeSH terms:
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Vascular Diseases
Cardiovascular Diseases