Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

NCT03560570 | Completed

• 1 other identifier: CNIL2126725
• Study Type: observational
• Target: 57
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Disorders of Glycosylation

Keywords

stroke-like; thrombosis; haemorrhages

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (3)

Event group

CDG with antecedent of stroke-like, thrombosis or haemorrhages

Biological: Coagulation assay; Other: Clinical data collection

Non event group

CDG without antecedent of stroke-like, thrombosis or haemorrhages

Biological: Coagulation assay; Other: Clinical data collection

Control

Healthy subject

Biological: Coagulation assay; Other: Clinical data collection

Interventions

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

Control; Event group; Non event group

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)

Control; Event group; Non event group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

CDG cohort comes from reference center of rares metabolic diseases of Necker-Enfants malades hospital in Paris

You may qualify if:

• Clinical diagnosis of Congenital Disorder of Glycosylation (CDG)

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker Enfants malades

Paris, Paris, 75015, France

Location

Related Publications (1)

• Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D. Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies. J Thromb Haemost. 2019 Nov;17(11):1798-1807. doi: 10.1111/jth.14559. Epub 2019 Jul 28.

  PMID: 31271700 RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma sample

MeSH Terms

Conditions

Congenital Disorders of Glycosylation; Thrombosis; Hemorrhage

Interventions

Bleeding Time

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Platelet Function Tests; Hematologic Tests; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Blood Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena

Study Officials

• Delphine Borgel, PharmaD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 6, 2018
• First Posted: June 18, 2018
• Study Start: January 1, 2014
• Primary Completion: January 31, 2017
• Study Completion: December 31, 2017
• Last Updated: March 5, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)