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CompletedNCT03293134VPCAUpdated Sep 26, 2017

Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

An observational study in Proliferative Vasculopathy, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2017-09-26.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Other
Time perspective
Other
Enrollment
25
Sex
All
01

Study 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.
02

Conditions studied

  • Proliferative Vasculopathy

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Keywords

  • Fowler syndrome
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.

Inclusion criteria

  • Angiodysplasia restricted to central nervous system with or without glomerular vasculopathy.
  • Informed consent signed.

Exclusion criteria

Exclusion Criteria:

  • Vascular malformations not confined to the nevrax.
  • No signature of consent.
04

Study design

Observational model
Other
Time perspective
Other
Enrollment
25 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
05

What researchers measure

Primary outcomes

  1. Morphological analysis

    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)

    Time frame: throughout the study: 36 months

Secondary outcomes

  1. Identification of novel disease

    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.

    Time frame: throughout the study: 36 months

06

Study locations

1 site
  • Hôpital Necker Enfants Malades, APHP
    Paris, 75006, France
07

References and documents

Publications

  • 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. PubMed 20690116 ↗

Individual participant data

Plan to share: No

08

Registry details

Key details

Study ID
NCT03293134
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Responsible party
Sponsor
First posted
Sep 26, 2017
Start date
Jul 8, 2013
Primary completion
Mar 9, 2015
Completion
Oct 6, 2016
Last update
Sep 26, 2017

Study contacts

Tania Attié-Bitach, MD, PhD
principal investigator · Hôpital Necker Enfants Malades, APHP

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Mar 2017. You cannot join it, but the record below documents what was studied.

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