Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

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.

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Key information

Conditions

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Embolism and Thrombosis Genetic Diseases, Inborn Hemorrhage Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Thrombosis Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Necker Enfants malades

Paris, 75015, France

About this study

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)

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

-Clinical diagnosis of Congenital Disorder of Glycosylation (CDG)

Exclusion criteria

no exclusion criteria

Treatment and study plan

Coagulation assay

Biological

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

Clinical data collection

Other

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)

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay

Acronym: CDG-Coag

Important dates

Study start: 2014
Primary completion: 2017
Study completion: 2017
First posted: Jun 18, 2018
Registry last updated: Mar 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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