NCT03250728

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
6

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Nov 2017

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 11, 2017

Completed
5 days until next milestone

First Posted

Study publicly available on registry

August 16, 2017

Completed
3 months until next milestone

Study Start

First participant enrolled

November 23, 2017

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 26, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 26, 2019

Completed
Last Updated

September 15, 2025

Status Verified

September 1, 2025

Enrollment Period

1.4 years

First QC Date

August 11, 2017

Last Update Submit

September 8, 2025

Conditions

Congenital Disorders of Glycosylation

Keywords

CDGStroke-likeEndothelial progenitor cells (EPCs)Protein CCongenital Disorders og Glycosylation

Outcome Measures

Primary Outcomes (2)

  • Endothelial permeability assay in basal condition

    at inclusion

  • Endothelial permeability assay after an heat shock

    at inclusion

Secondary Outcomes (3)

  • Activated protein C generation assay on the endothelial cell surface

    at inclusion

  • Quantification of the endothelial receptors (EPCR, TM, PAR1)

    at inclusion

  • Endothelial permeability assay after an activated protein C incubation

    at inclusion

Study Arms (2)

CDG with stroke-like history

OTHER
Biological: Peripheral blood puncture

CDG without stroke-like history

OTHER
Biological: Peripheral blood puncture

Interventions

Peripheral blood punctureBIOLOGICAL

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 with stroke-like historyCDG without stroke-like history

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

  • rejection to participate in research

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hopital Necker enfants malades

Paris, Paris, 75015, France

Location

MeSH Terms

Conditions

Congenital Disorders of Glycosylation

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Pascale De Lonlay, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

  • Delphine Borgel, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 11, 2017

First Posted

August 16, 2017

Study Start

November 23, 2017

Primary Completion

April 26, 2019

Study Completion

April 26, 2019

Last Updated

September 15, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)