<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03293134</url>
  </required_header>
  <id_info>
    <org_study_id>NI11031</org_study_id>
    <nct_id>NCT03293134</nct_id>
  </id_info>
  <brief_title>Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy</brief_title>
  <acronym>VPCA</acronym>
  <official_title>Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique - Hôpitaux de Paris</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assistance Publique - Hôpitaux de Paris</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      As principal objective, the study aims to:&#xD;
&#xD;
        1. Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax;&#xD;
&#xD;
        2. Establish the physiopathological basis of Fowler's syndrome;&#xD;
&#xD;
        3. Identify FLVCR2 partners and the signaling pathways involved;&#xD;
&#xD;
        4. Test new candidate genes: GPR124 and possible partners of FLVCR2.&#xD;
&#xD;
      As second objective, the study aims to:&#xD;
&#xD;
        -  perform phenotype / genotype correlation if necessary;&#xD;
&#xD;
        -  and propose a prenatal diagnosis in families with identified mutations.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">July 8, 2013</start_date>
  <completion_date type="Actual">October 6, 2016</completion_date>
  <primary_completion_date type="Actual">March 9, 2015</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Morphological analysis</measure>
    <time_frame>throughout the study: 36 months</time_frame>
    <description>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)</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Identification of novel disease</measure>
    <time_frame>throughout the study: 36 months</time_frame>
    <description>Identification of novel disease causing genes in addition to FLVCR2 by whole exome sequencing.&#xD;
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.</description>
  </secondary_outcome>
  <enrollment type="Actual">25</enrollment>
  <condition>Proliferative Vasculopathy</condition>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Whole blood, cells cultivated, extracted DNA and fetal tissue.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Angiodysplasia restricted to central nervous system with or without glomerular&#xD;
             vasculopathy.&#xD;
&#xD;
          -  Informed consent signed.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Vascular malformations not confined to the nevrax.&#xD;
&#xD;
          -  No signature of consent.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Tania Attié-Bitach, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hôpital Necker Enfants Malades, APHP</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Hôpital Necker Enfants Malades, APHP</name>
      <address>
        <city>Paris</city>
        <zip>75006</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <results_reference>
    <citation>Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.</citation>
    <PMID>20690116</PMID>
  </results_reference>
  <verification_date>March 2017</verification_date>
  <study_first_submitted>May 2, 2017</study_first_submitted>
  <study_first_submitted_qc>September 21, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 26, 2017</study_first_posted>
  <last_update_submitted>September 21, 2017</last_update_submitted>
  <last_update_submitted_qc>September 21, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">September 26, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Fowler syndrome</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Vascular Diseases</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03293134
org study id: NI11031
nct id: NCT03293134
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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.
observational model: Other
time perspective: Other
measure: Morphological analysis
time frame: throughout the study: 36 months
description: 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)
measure: Identification of novel disease
time frame: throughout the study: 36 months
description: 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.
Whole blood, cells cultivated, extracted DNA and fetal tissue.
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Tania Attié-Bitach, MD, PhD
role: Principal Investigator
affiliation: Hôpital Necker Enfants Malades, APHP
facility: 
country: France
citation: Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.
PMID: 20690116
responsible party type: Sponsor
mesh term: Vascular Diseases
sharing ipd: No