Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT03560570 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 57
Last updated 2026-03-05
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.
Conditions
- Congenital Disorders of Glycosylation
Interventions
- 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)
Sponsors & Collaborators
-
URC-CIC Paris Descartes Necker Cochin
collaborator OTHER -
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Delphine Borgel, PharmaD, PhD · Assistance Publique - Hôpitaux de Paris
Eligibility
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2014-01-01
- Primary Completion
- 2017-01-31
- Completion
- 2017-12-31
Countries
- France
Study Locations
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