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Role of the Endothelium in Stroke-like Episode Among CDG Patients (PECDG)

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ClinicalTrials.gov Identifier: NCT03250728
Recruitment Status : Recruiting
First Posted : August 16, 2017
Last Update Posted : January 17, 2018
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
The aim of the study is to evaluate the role of the endothelial barrier in the occurrence of stroke-like episode. And to study the protein C system on the surface of the endothelium.

Condition or disease Intervention/treatment Phase
Congenital Disorders of Glycosylation Biological: Peripheral blood puncture Not Applicable

Detailed Description:

The study consists in isolating endothelial progenitor cells in peripheral blood. After blood puncture, PBMC (peripheral blood mononuclear cell) are isolated by Ficoll gradient and then culturing in appropriated medium.

When cells are confluent, investigators can study the endothelial barrier by using permeability assay and transendothelial resistance test (iCELLigence technology).

Then, protein C system will be studied. Indeed, EPCR (Endothelial protein C receptor) and TM (thrombomodulin), are the two receptors responsible for the activation of protein C. The expression of these receptors will be assessed in flow cytometry. The activated protein C is able to interact with the third receptor PAR1 (Protease activated receptor 1) which is responsible for the protective effects of the on the endothelial barrier. The PAR1 expression will be studied in flow cytometry also.

In order to measure the capacity of the protein C system to generate activated protein C investigators will assay an activated protein C generation on the cell surface.

All these assays will be realized in basal condition and in heat stress (42°C), to mimic the stroke-like episode environment. Indeed, stroke-like episodes occur always during febrile illness.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 8 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Role of the Endothelium in Stroke-like Episode Among CDG Patients
Actual Study Start Date : November 23, 2017
Estimated Primary Completion Date : November 2019
Estimated Study Completion Date : November 2020


Arm Intervention/treatment
CDG with stroke-like history Biological: Peripheral blood puncture

Endothelial progenitor cells will be isolated from peripheral blood by density gradient and cultured in 10%FBS EGM2 medium

On the EPCs we will study:

  • the endothelial permeability
  • the protein C system

CDG without stroke-like history Biological: Peripheral blood puncture

Endothelial progenitor cells will be isolated from peripheral blood by density gradient and cultured in 10%FBS EGM2 medium

On the EPCs we will study:

  • the endothelial permeability
  • the protein C system




Primary Outcome Measures :
  1. Endothelial permeability assay in basal condition [ Time Frame: at inclusion ]
  2. Endothelial permeability assay after an heat shock [ Time Frame: at inclusion ]

Secondary Outcome Measures :
  1. Activated protein C generation assay on the endothelial cell surface [ Time Frame: at inclusion ]
  2. Quantification of the endothelial receptors (EPCR, TM, PAR1) [ Time Frame: at inclusion ]
  3. Endothelial permeability assay after an activated protein C incubation [ Time Frame: at inclusion ]


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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • patients with CDG molecularly diagnosed
  • with stroke-like history or not

Exclusion Criteria:

  • rejection to participate in research

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): NCT03250728


Contacts
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Contact: Pascale De Lonlay, MD, PhD +33 1 42 19 26 94 pascale.delonlay@aphp.fr
Contact: Nelly Briand, PhD +33 1 44 38 18 62

Locations
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France
Hopital Necker enfants malades Recruiting
Paris, France, 75015
Contact: Delphine Borgel, MD, PhD    +33 1 44 49 49 46    delphine.borgel@aphp.fr   
Contact: Tiffany Pascreau, MD, PhD    + 33 1 44 49 49 46    tiffany.pascreau@aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
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Principal Investigator: Pascale De Lonlay, MD, PhD Assistance Publique - Hôpitaux de Paris
Study Director: Delphine Borgel, MD, PhD Assistance Publique - Hôpitaux de Paris

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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT03250728     History of Changes
Other Study ID Numbers: K170703J
2017-A02141-52 ( Registry Identifier: ANSM-IDRCB )
First Posted: August 16, 2017    Key Record Dates
Last Update Posted: January 17, 2018
Last Verified: November 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:
CDG
Stroke-like
Endothelial progenitor cells (EPCs)
Protein C
Congenital Disorders og Glycosylation

Additional relevant MeSH terms:
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Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases