Congenital Disorders of GlycosylationPECDGNCT03250728
Role of the Endothelium in Stroke-like Episode Among CDG Patients
A study testing Peripheral blood puncture in people with Congenital Disorders of Glycosylation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Congenital Disorders of Glycosylation
- What is being tested?
- Peripheral blood puncture
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteFrance
- Study dates
- 23 Nov 2017to 26 Apr 2019
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- patients with CDG molecularly diagnosed
- with stroke-like history or not
Who cannot join
- rejection to participate in research
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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
- Being tested
- Peripheral blood puncture
- Keywords
- CDG, Stroke-like, Endothelial progenitor cells (EPCs), Protein C, Congenital Disorders og Glycosylation
- Medical subject headings
- Congenital Disorders of Glycosylation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
| Study group | Role | What they receive |
|---|---|---|
| CDG with stroke-like history | Other | Not described Receives: Biological: Peripheral blood puncture |
| CDG without stroke-like history | Other | Not described Receives: Biological: Peripheral blood puncture |
What is being measured
The primary outcome is the main question the study is designed to answer.
Endothelial permeability assay in basal condition
Measured: at inclusion
Endothelial permeability assay after an heat shock
Measured: at inclusion
Secondary outcomes (3)
Activated protein C generation assay on the endothelial cell surface
Measured: at inclusion
Quantification of the endothelial receptors (EPCR, TM, PAR1)
Measured: at inclusion
Endothelial permeability assay after an activated protein C incubation
Measured: at inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Aug 2017
- Study start23 Nov 2017
- Primary completion26 Apr 2019
- Study completion26 Apr 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Disorders of GlycosylationStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Pascale De Lonlay, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de ParisDelphine Borgel, MD, PhD, Study director, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03250728
- Sponsor's protocol ID
- K170703J
- Other IDs
- 2017-A02141-52
- Acronym
- PECDG
- Status last verified
- Mar 2026
- First submitted
- 11 Aug 2017
- Last updated
- 3 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No