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

NCT ID: NCT03250728

Last Updated: 2025-09-15

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 6 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2017-11-23
• Study Completion Date: 2019-04-26

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.

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.

Conditions

Congenital Disorders of Glycosylation

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

CDG with stroke-like history

Group Type: OTHER

Peripheral blood puncture

Intervention Type: 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

CDG without stroke-like history

Group Type: OTHER

Peripheral blood puncture

Intervention Type: 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

Interventions

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

Intervention Type: BIOLOGICAL

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• rejection to participate in research

• Minimum Eligible Age: 6 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Pascale De Lonlay, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Delphine Borgel, MD, PhD

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Paris

Locations

Hopital Necker enfants malades

Paris, Paris, France

Countries

France

Other Identifiers

2017-A02141-52

Identifier Type: REGISTRY

Identifier Source: secondary_id

K170703J

Identifier Type: -

Identifier Source: org_study_id