Study of Hemostasis in Patients With Congenital Disorder of Glycosylation (CDG-Coag)
March 3, 2026 updated by: Assistance Publique - Hôpitaux de Paris
Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay
The purpose of this study is to investigate the coagulation balance in a cohort of congenital disorder of glycosylation (CDG) patients using conventional tests combined with an integrated approach of their coagulation disorders in using TGA in the absence or presence of sTM.
Thus, investigators aimed to define if the hemostatic balance in CDG patients, is preserved despite of combined deficiencies in both procoagulant and anticoagulant factors.
Study Overview
Status
Completed
Conditions
Intervention / Treatment
Detailed Description
In CDG, coagulation abnormalities, affecting both pro and anticoagulant factors, could account for onset of acute microvascular events in these patients.
In line with this hypothesis, a previous study reported a correlation between low activity of anticoagulant factors and thrombosis, although stroke-like episodes, the most frequent event, were not analyzed in this study.
Moreover, the hemostatic balance is usually investigated by global coagulation tests such as the prothrombin time (PT) and the activated partial thromboplastin (aPTT).
However, these tests have serious limitations.
First, they explore only 5 % of the whole generated thrombin, enough to clot the plasma.
In addition, global tests are insensitive to the coagulation inhibitors, especially the PC system which cannot be mobilized in the absence of thrombomodulin (TM).
The thrombin generation assay (TGA), is also a global coagulation assay, but it allows exploration of the whole thrombin formation process from its generation to its inhibition.
Moreover, combining different analytical conditions, all the anticoagulant systems could be investigated, including antithrombin in basal conditions and the PC system in the presence of soluble TM (sTM)
Study Type
Observational
Enrollment (Actual)
57
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
Paris
-
Paris, Paris, France, 75015
- Hôpital Necker Enfants Malades
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Yes
Sampling Method
Non-Probability Sample
Study Population
CDG cohort comes from reference center of rares metabolic diseases of Necker-Enfants malades hospital in Paris
Description
Inclusion Criteria:
-Clinical diagnosis of Congenital Disorder of Glycosylation (CDG)
Exclusion Criteria:
- no exclusion criteria
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
Event group
CDG with antecedent of stroke-like, thrombosis or haemorrhages
|
Conventional coagulation assays: prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, factor II, FV, FVII, FX, FVIII, FIX, FXI, FXII, d-dimers, antithrombin, protein C, protein S Thrombin generation assay: in presence or not of soluble thrombomodulin
At inclusion, we recorded clinical data about the disease (type and form of congenital disorder of glycosylation, and antecedent of microvascular event: thrombosis, stroke-like or hemorrhages)
|
|
Non event group
CDG without antecedent of stroke-like, thrombosis or haemorrhages
|
Conventional coagulation assays: prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, factor II, FV, FVII, FX, FVIII, FIX, FXI, FXII, d-dimers, antithrombin, protein C, protein S Thrombin generation assay: in presence or not of soluble thrombomodulin
At inclusion, we recorded clinical data about the disease (type and form of congenital disorder of glycosylation, and antecedent of microvascular event: thrombosis, stroke-like or hemorrhages)
|
|
Control
Healthy subject
|
Conventional coagulation assays: prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, factor II, FV, FVII, FX, FVIII, FIX, FXI, FXII, d-dimers, antithrombin, protein C, protein S Thrombin generation assay: in presence or not of soluble thrombomodulin
At inclusion, we recorded clinical data about the disease (type and form of congenital disorder of glycosylation, and antecedent of microvascular event: thrombosis, stroke-like or hemorrhages)
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Evaluation of haemostatic balance using thrombin generation assay
Time Frame: Up to 1 year
|
The assessment of thrombin generation in presence or not of soluble thrombomodulin allows to determine a ratio "R" (without units) calculated as follow : ETP (endogenous thrombin potential) with soluble thrombomodulin (nM/min)/basal ETP (nM/min).
This ratio reflects the hypocoagulant or hypercoagulant profile.
|
Up to 1 year
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Collaborators
Investigators
- Principal Investigator: Delphine Borgel, PharmaD, PhD, Assistance Publique - Hôpitaux de Paris
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
January 1, 2014
Primary Completion (Actual)
January 31, 2017
Study Completion (Actual)
December 31, 2017
Study Registration Dates
First Submitted
April 6, 2018
First Submitted That Met QC Criteria
June 6, 2018
First Posted (Actual)
June 18, 2018
Study Record Updates
Last Update Posted (Actual)
March 5, 2026
Last Update Submitted That Met QC Criteria
March 3, 2026
Last Verified
March 1, 2026
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Vascular Diseases
- Cardiovascular Diseases
- Pathologic Processes
- Metabolism, Inborn Errors
- Genetic Diseases, Inborn
- Metabolic Diseases
- Embolism and Thrombosis
- Carbohydrate Metabolism, Inborn Errors
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Pathological Conditions, Signs and Symptoms
- Nutritional and Metabolic Diseases
- Thrombosis
- Hemorrhage
- Congenital Disorders of Glycosylation
- Investigative Techniques
- Clinical Laboratory Techniques
- Diagnostic Techniques and Procedures
- Diagnosis
- Hematologic Tests
- Blood Physiological Phenomena
- Circulatory and Respiratory Physiological Phenomena
- Platelet Function Tests
- Bleeding Time
Other Study ID Numbers
- CNIL2126725
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
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