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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
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date May 2, 2017
First Posted Date September 26, 2017
Last Update Posted Date September 26, 2017
Actual Study Start Date July 8, 2013
Actual Primary Completion Date March 9, 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 21, 2017)
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)
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: September 21, 2017)
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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy
Official Title Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy
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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Whole blood, cells cultivated, extracted DNA and fetal tissue.
Sampling Method Probability Sample
Study Population Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.
Condition Proliferative Vasculopathy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * 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, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: September 21, 2017)
25
Original Actual Enrollment Same as current
Actual Study Completion Date October 6, 2016
Actual Primary Completion Date March 9, 2015   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03293134
Other Study ID Numbers NI11031
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Not Provided
Investigators
Principal Investigator: Tania Attié-Bitach, MD, PhD Hôpital Necker Enfants Malades, APHP
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date March 2017