Natural History Study of Factor IX Treatment and Complications

Study Overview
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Brief Summary
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This study will examine two groups of subjects with factor IX (FIX) deficiency: 1) those with a current or history of inhibitors to FIX, and; 2) groups of two or more affected brothers, with or without inhibitors. The overall goal is to characterize the study groups in terms of their medical history, their patterns of bleeding, their care, quality of life, and complications including the development of joint disease, inhibitory antibodies to FIX, use of immune tolerance induction (ITI) and outcome.

Detailed Description
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Hemophilia B, FIX deficiency, is the second most common type of hemophilia, occurring in about one in 25,000 male births. This disease is in some ways more complex than hemophilia A, and is less well understood. Differences include a lower incidence and a greater risk of side effects to treatment, for example, allergic reactions and kidney disease. This study will examine two groups of subjects with FIX deficiency - those with a current or history of inhibitors to FIX, and groups of two or more affected brothers, with or without inhibitors. The overall goal is to characterize the study group in terms of their medical history, their patterns of bleeding, their care, quality of life, and complications including the development of inhibitory antibodies to FIX, allergies, kidney, and joint disease.

Official Title
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Natural History Study of Factor IX Treatment and Complications

Conditions
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Factor IX Deficiency

Intervention / Treatment
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* Other: Standard care with blood and urine sample collection


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: A consent approved by the appropriate Institutional Review Board (IRB)/Independent Ethics Committee (IEC) has been obtained from the subject or his legally acceptable representative Subject has FIX deficiency AND Is part of an affected brother pair/group that will also enroll; AND/OR Has a current or history of inhibitor, defined as >0.6 Bethesda units (BU) Exclusion Criteria: Subject has another congenital bleeding disorder Subject is a carrier of hemophilia B with factor level >0.40 IU/mL
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Standard care with blood and urine sample collection|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Inhibitory antibodies | Current or history of inhibitors | Baseline | 
| Annualized bleeding rate | Overall and by bleeding site | 6 months | 
| Joint assessment | Range of motion | Baseline | 
| Renal disorders | Reported subject and family history of renal disease | 6 months | 
| Hemophilia treatment adherence | Validated Hemophilia Regimen Treatment Adherence Scale--Prophylaxis (VERITAS-Pro), Validated Hemophilia Regimen Treatment Adherence Scale - PRN (VERITAS-PRN) | Baseline | 
| Health related quality of life | European Quality of Life - 5 Dimensions (EQ5D) | Baseline | 
| Non-inhibitory antibodies | Measured at central laboratory | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Factor IX usage | Treatment history with FIX replacement | 6 months | 
| Number of hospitalizations | Hospitalizations reported during 6 month follow up period | 6 months | 
| Number of surgical procedures | Surgical procedures reported during 6 month follow up period | 6 months | 
| number of days missed from school or work | Days missed from school or work during 6 month follow up period | 6 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hemophilia B, Hemophilia B with Inhibitors