Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Study of Hemostasis in Patients With Congenital Disorder of Glycosylation (CDG-Coag)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03560570
Recruitment Status : Completed
First Posted : June 18, 2018
Last Update Posted : August 31, 2018
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief 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.

Condition or disease Intervention/treatment
Congenital Disorders of Glycosylation Biological: Coagulation assay Other: Clinical data collection

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)

Layout table for study information
Study Type : Observational
Actual Enrollment : 57 participants
Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay
Actual Study Start Date : January 1, 2014
Actual Primary Completion Date : January 31, 2017
Actual Study Completion Date : December 31, 2017


Group/Cohort Intervention/treatment
Event group
CDG with antecedent of stroke-like, thrombosis or haemorrhages
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)

Non event group
CDG without antecedent of stroke-like, thrombosis or haemorrhages
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)

Control
Healthy subject
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)




Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples Without DNA
Plasma sample


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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
Criteria

Inclusion Criteria:

-Clinical diagnosis of Congenital Disorder of Glycosylation (CDG)

Exclusion Criteria:

- no exclusion criteria


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03560570


Locations
Layout table for location information
France
Hôpital Necker Enfants malades
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Layout table for investigator information
Principal Investigator: Delphine Borgel, PharmaD, PhD Assistance Publique - Hôpitaux de Paris
Layout table for additonal information
Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT03560570    
Other Study ID Numbers: CNIL2126725
First Posted: June 18, 2018    Key Record Dates
Last Update Posted: August 31, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
stroke-like
thrombosis
haemorrhages
Additional relevant MeSH terms:
Layout table for MeSH terms
Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases