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Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients

Completed
Conditions
Hemophilia
Interventions
Other: blood specimen
Registration Number
NCT02540187
Lead Sponsor
Centre Hospitalier Universitaire de Saint Etienne
Brief Summary

Haemophilia is a rare and serious congenital defect of blood coagulation due to a genetic mutation on a sexual chromosome. It affects quasi-essentially the men and it is responsible for bleeding. There are two types of haemophilia: Haemophilia A, (85 % of cases), due to a factor VIII (FVIII) deficiency and Haemophilia B (15 % of cases) due to factor IX (FIX) deficiency. According to the intensity of the defect, there are three forms of haemophilia: severe (FVIII or FIX lower than 1 %), moderate (factor level between 1 and 5 %), minor (factor level between 5 and 40 %). For a same level of factor VIII or IX, hemorrhagic manifestations are variable from one patient to the other. Moreover, several studies showed that haemophilic B patients bleed less and consume fewer anti-hemophilic concentrate that haemophilic A patients.

The main inhibitors of the coagulation are antithrombin, Protein C-Protein S-Thrombomodulin system, and tissue factor pathway inhibitor (TFPI). TFPI is the specific and exclusive inhibitor of tissue factor pathway that is the main way by which plasmatic coagulation starts. TFPI is a potent direct inhibitor of factor Xa and Xa-dependent inhibitor of the VIIa-Tissue Factor (TF) complex. In hemophilic patient, the production of Xa by the amplification pathway being strongly altered because of factor VIII or IX deficiency, thrombin generation (via Xa) comes exclusively from TFPI regulated tissue factor pathway. We can thus say that if haemophilic patients bleed, it is also because of the presence of TFPI that inhibits at the same time Xa and the complex TF-VIIa as soon as factor Xa is generated.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
164
Inclusion Criteria
  • Haemophilia A and B patients between 18 and 65 years old, whatever the severity of their disease, who have signed the informed consent form
  • On-demand or on prophylactic therapy.
  • Regular monitoring in investigator center.
Exclusion Criteria
    • Haemophilia patients under 18.
  • Presence of an inhibitor at any time before or during the study period.
  • Patients who received factor VIII concentrate less than 72 hours or factor IX concentrate less than 96 hours before blood collection
  • Patients who refused to sign informed consent
  • Patient data over the last 5 years at least not available.
  • No regular monitoring in haemophilia center (required at least one visit every 18 months for severe or moderate hemophiliac patients).

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
haemophilia Ablood specimen1. Blood specimen for measuring : * Free TFPI and TFPI activity levels * Thrombin generation in platelet rich plasma (PRP) and platelet poor plasma (PPP) * Thrombin generation assay (TGA) in fresh PRP and frozen PPP 2. Hemorrhage score for each patient
Haemophilia Bblood specimen1. Blood specimen for measuring : * Free TFPI and TFPI activity levels * Thrombin generation in platelet rich plasma (PRP) and platelet poor plasma (PPP) * Thrombin generation assay (TGA) in fresh PRP and frozen PPP 2. Hemorrhage score for each patient
Primary Outcome Measures
NameTimeMethod
Comparison for TFPI level between Haemophilia A and Haemophilia Bday 1

Comparison for TFPI level between Haemophilia A and Haemophilia B

Comparison for TFPI level between severe Haemophilia A and severe Haemophilia BDay 1

Comparison for TFPI level between severe Haemophilia A and severe Haemophilia B

Comparison for TFPI level between moderate or mild Haemophilia A and moderate or mild Haemophilia BDay 1

Comparison for TFPI level between moderate or mild Haemophilia A and moderate or mild Haemophilia B

Secondary Outcome Measures
NameTimeMethod
Correlation between TFPI activity and hemorrhagic scoreday 1

Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score. It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

TFPI activity will be measured according to the technique described and modified by Sandset

Correlation between Peak value and free TFPIday 1

Peak Value (PV, nmol thrombin) of the thrombin Generation curve is measured by thromboplastin Generation Test (TGTs) Free TFPI levels will be measured by ELISA according to the manufacturer's recommendations

Correlation between Time to Peak and free TFPIday 1

Time to Peak (TTP, min) of the thrombin Generation curve is measured by thromboplastin Generation Test (TGTs) Free TFPI levels will be measured by ELISA according to the manufacturer's recommendations

Correlation between Time to Peak and hemorrhagic scoreday 1

Time to Peak (TTP, min) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs) Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score. It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

Correlation between Endogenous Thrombin Potential (ETP) and free TFPIday 1

Endogenous Thrombin Potential (i.e. the aera under the thrombin generation curve, nM.min) is measured by thromboplastin Generation Test (TGTs) Free TFPI levels will be measured by ELISA according to the manufacturer's recommendations

Correlation between Lag Time and free TFPIday 1

Lag time (min) of the thrombin Generation curve is measured by thromboplastin Generation Test (TGTs) Free TFPI levels will be measured by ELISA according to the manufacturer's recommendations

Comparison for Time to Peak between haemophilia A et Haemophilia Bday 1

Time to Peak (TTP, min) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs)

Correlation between free TFPI and hemorrhagic scoreday 1

Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score (HSS). It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

Free TFPI levels will be measured by ELISA according to the manufacturer's recommendations

Comparison for lag time between haemophilia A et Haemophilia BDay 1

Lag time (min) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs)

Correlation between ETP and hemorrhagic scoreday 1

Endogenous Thrombin Potential (i.e. the aera under the thrombin generation curve, nM.min) is measured by Thromboplastin Generation Test (TGTs) Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score. It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

Correlation between Lag Time and hemorrhagic scoreday 1

Lag time (min) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs) Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score. It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

Comparison for ETP between haemophilia A et Haemophilia BDay 1

Endogenous Thrombin Potential (i.e. the aera under the thrombin generation curve, nM.min) is measured by Thromboplastin Generation Test (TGTs)

Comparison for Peak Value between haemophilia A et Haemophilia BDay 1

Peak Value (PV, nmol thrombin) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs)

Correlation between Peak Value and hemorrhagic scoreday 1

Peak Value (PV, nmol thrombin) of the thrombin generation curve is measured by thromboplastin Generation Test (TGTs) Hemorrhagic score is established on the 5 to 10 last years. For severe hemophilic patients: it will use a composite scoring system designed to reflect the clinical severity of haemophilia and named HSS for Haemophilia Severity Score. It consists in the sum of three components: annual incidence of joint bleeds, orthopedic joint score and annual factor utilization. The orthopedic joint score combines pain and physical examination scores as recommended by the orthopedic Advisory Committee of the World Federation of Haemophilia.

For mild or moderate hemophilic patients, HSS is not suitable. A composite measure will be used and consist in all bleeding events and consumption of factor concentrate in surgical situation.

Trial Locations

Locations (7)

CHRU Lille

🇫🇷

Lille, France

AP-HM

🇫🇷

Marseille, France

HCL

🇫🇷

Lyon, France

Chu Nancy

🇫🇷

Nancy, France

Chu Reims

🇫🇷

Reims, France

CHU Saint-Etienne

🇫🇷

Saint-Etienne, France

Chu Tours

🇫🇷

Tours, France

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