Natural History Study of Factor IX Treatment and Complications

• Conditions: Factor IX Deficiency

• Registration Number: NCT02502409
• Lead Sponsor: Skane University Hospital

Brief Summary

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

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.

Study Timeline

• Study Start: 2015-07
• Study First Submitted: 2015-07-13
• Study First Submitted QC: 2015-07-16
• Study First Posted: 2015-07-20
• Primary Completion: 2019-06
• Status Verified: 2021-05
• Last Update Submitted: 2021-05-20
• Last Update Posted: 2021-05-25
• Study Completion: 2021-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 550

Inclusion Criteria

1. 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

2. 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

1. Subject has another congenital bleeding disorder
2. Subject is a carrier of hemophilia B with factor level >0.40 IU/mL

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Indiana Hemophilia & Thrombosis Center; 🇺🇸 Indianapolis, Indiana, United States