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

Congenital Disorders of Glycosylation Clinical Trial

— PECDG  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03250728
• Other study ID #: K170703J
• Secondary ID: 2017-A02141-52
• Status: Completed
• Phase: N/A
• Start date: November 23, 2017
• Est. completion date: April 26, 2019

Study information

• Verified date: January 2020
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 6
• Est. completion date: April 26, 2019
• Est. primary completion date: April 26, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years and older

Eligibility

Inclusion Criteria:

• patients with CDG molecularly diagnosed

• with stroke-like history or not

Exclusion Criteria:

• rejection to participate in research

Related Conditions & MeSH terms

• Congenital Disorders of Glycosylation

Intervention

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

Locations

Country	Name	City	State
France	Hopital Necker enfants malades	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Endothelial permeability assay in basal condition		at inclusion
Primary	Endothelial permeability assay after an heat shock		at inclusion
Secondary	Activated protein C generation assay on the endothelial cell surface		at inclusion
Secondary	Quantification of the endothelial receptors (EPCR, TM, PAR1)		at inclusion
Secondary	Endothelial permeability assay after an activated protein C incubation		at inclusion