Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

Congenital Disorders of Glycosylation Clinical Trial

— CDG-Coag  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03560570
• Other study ID #: CNIL2126725
• Status: Completed
• Start date: January 1, 2014
• Est. completion date: December 31, 2017

Study information

• Verified date: June 2018
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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)

Recruitment information / eligibility

• Status: Completed
• Enrollment: 57
• Est. completion date: December 31, 2017
• Est. primary completion date: January 31, 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

-Clinical diagnosis of Congenital Disorder of Glycosylation (CDG)

Exclusion Criteria:

• no exclusion criteria

Related Conditions & MeSH terms

• Congenital Disorders of Glycosylation
• Disease

Intervention

Biological:
• Coagulation assay
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

Other:
• Clinical data collection
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)

Locations

Country	Name	City	State
France	Hôpital Necker Enfants malades	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluation of haemostatic balance using thrombin generation assay	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