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Completed

NCT Number: NCT03250728

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

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.

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Key information

Conditions

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

6 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hopital Necker enfants malades

Paris, 75015, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • rejection to participate in research

Treatment and study plan

Peripheral blood puncture

Biological

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 outcomes

  1. Endothelial permeability assay in basal condition

    Time frame: at inclusion

  2. Endothelial permeability assay after an heat shock

    Time frame: at inclusion

Secondary outcomes

  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

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Acronym: PECDG

Important dates

Study start
2017
Primary completion
2019
Study completion
2019
First posted
Aug 16, 2017
Registry last updated
Apr 3, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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