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
- Are there results?
- None posted in the registry
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
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of the Endothelium in Stroke-like Episode Among CDG Patients
- ClinicalTrials.gov ID
- NCT03250728
- Acronym / sponsor ID
- PECDG / K170703J
- Conditions
- Congenital Disorders of Glycosylation
- Keywords
- CDG, Stroke-like, Endothelial progenitor cells (EPCs), Protein C, Congenital Disorders og Glycosylation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 23 Nov 2017 (actual)
- Primary completion
- 26 Apr 2019 (actual)
- Study completion
- 26 Apr 2019 (actual)
- First posted
- 16 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CDG with stroke-like history | Other | Biological: Peripheral blood puncture |
| CDG without stroke-like history | Other | Biological: Peripheral blood puncture |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- patients with CDG molecularly diagnosed
- with stroke-like history or not
Key exclusion criteria (1 listed)
- rejection to participate in research
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Peripheral blood punctureEndothelial 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 | Biological | CDG with stroke-like history, CDG without stroke-like history |
Primary outcome
Endothelial permeability assay in basal condition
Time frame: at inclusion
Endothelial permeability assay after an heat shock
Time frame: at inclusion
3 secondary outcomes
Activated protein C generation assay on the endothelial cell surface
Time frame: at inclusion
Quantification of the endothelial receptors (EPCR, TM, PAR1)
Time frame: at inclusion
Endothelial permeability assay after an activated protein C incubation
Time frame: at inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pascale De Lonlay, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
Delphine Borgel, MD, PhD study director
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
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.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Endothelial permeability assay in basal condition (time frame: at inclusion). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2026.