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| Name | Class |
|---|---|
| Indiana Hemophilia &Thrombosis Center, Inc. | OTHER |
| Bioverativ Therapeutics Inc. | INDUSTRY |
| Swedish Orphan Biovitrum | INDUSTRY |
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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Standard care with blood and urine sample collection | Other |
| 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 |
| 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 |
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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
Exclusion Criteria:
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The population includes groups of two or more affected brothers, with or without a history of inhibitors, who share(d) one or both biological parents; and individuals with a history of an inhibitor. Most affected brother pairs will be concordant for no inhibitor and will serve as a control group for those with inhibitors. The study is open to subjects with mild (0.05-0.40 IU/mL), moderate (0.01-<0.05 IU/mL), or severe (<0.01 IU/mL) FIX deficiency. Females meeting the eligibility criteria may participate. There are no lower or upper age limits. Type of treatment, regimen, dosing and product(s) used are at the discretion of the investigator.
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| Name | Affiliation | Role |
|---|---|---|
| Erik Berntorp, MD, PhD | Skåne University Hospital, Malmö | Study Director |
| Amy D Shapiro, MD | Indiana Hemophilia &Thrombosis Center, Inc. | Study Director |
| Jan Astermark, MD, PhD | Skåne University Hospital, Malmö | Study Director |
| Christine Knoll, MD | Phoenix Children's Hospital, Phoenix, AZ | Principal Investigator |
| Yasmina Abajas, MD | University of North Carolina Hemophilia Treatment Center, Chapel Hill, NC | Principal Investigator |
| Catherine McGuinn, MD | Weill Cornell Medical College, New York, NY | Principal Investigator |
| Munira Borhany, MD | National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, Pakistan | Principal Investigator |
| Philip Kuriakose, MD | Henry Ford Health System, Detroit, MI | Principal Investigator |
| Eva Funding, MD | National University Hospital Copenhagen, Copenhagen, Denmark |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Indiana Hemophilia & Thrombosis Center | Indianapolis | Indiana | 46260 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33278853 | Background | Shapiro AD, Ragni MV, Borhany M, Abajas YL, Tarantino MD, Holstein K, Croteau SE, Liesner R, Tarango C, Carvalho M, McGuinn C, Funding E, Kempton CL, Bidlingmaier C, Cohen A, Oldenburg J, Kearney S, Knoll C, Kuriakose P, Acharya S, Reiss UM, Kulkarni R, Witkop M, Lethagen S, Donfield S, LeBeau P, Berntorp E, Astermark J. Natural history study of factor IX deficiency with focus on treatment and complications (B-Natural). Haemophilia. 2021 Jan;27(1):49-59. doi: 10.1111/hae.14139. Epub 2020 Dec 5. |
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| ID | Term |
|---|---|
| D002836 | Hemophilia B |
| ID | Term |
|---|---|
| D025861 | Blood Coagulation Disorders, Inherited |
| D001778 | Blood Coagulation Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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| ID | Term |
|---|---|
| D059039 | Standard of Care |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D019984 | Quality Indicators, Health Care |
| D011787 | Quality of Health Care |
| D006298 | Health Services Administration |
| D017530 | Health Care Quality, Access, and Evaluation |
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Serum, plasma, cells
| 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 |
| Principal Investigator |
| Stacy Croteau, MD | Boston Hemophilia Center, Boston, MA | Principal Investigator |
| Christine Kempton, MD | Emory University, Atlanta, Georgia | Principal Investigator |
| Susan Kearney, MD | Children's Hospitals and Clinics of Minnesota, Minneapolis, MN | Principal Investigator |
| Suchitra Acharya, MD | Cohen Children's Medical Center, New Hyde Park, NY | Principal Investigator |
| Roshni Kulkarni, MD | Michigan State University, East Lansing, MI | Principal Investigator |
| Raina Liesner, MD | Great Ormond Street Hospital for Children, London, UK | Principal Investigator |
| Christoph Bidlingmaier, MD | Dr. v Hauner Children's University Hospital, Munich, Germany | Principal Investigator |
| Alice J. Cohen, MD | Newark Beth Israel Medical Center, Newark, NJ | Principal Investigator |
| Manuela Carvalho, MD | Centro Hospitalar de São João, Porto, Portugal | Principal Investigator |
| Margaret Ragni, MD | University of Pittsburgh and Hemophilia Center of Western Pennsylvania, Pittburgh, PA US | Principal Investigator |
| Ulrike Reiss, MD | St. Jude Children's Research Hospital, Memphis, TN US | Principal Investigator |
| Michelle Witkop, DNP, FNP-BC | Munson Medical Center, Traverse City, MI, US | Principal Investigator |
| Katharina Holstein, MD | University Medical Centre Hamburg-Eppendorf, Hamburg, Germany | Principal Investigator |
| Cristina Tarango, MD | Cincinnati Children's Hospital Medical Center, Cincinnati, OH US | Principal Investigator |
| Michael D Tarantino, MD | Bleeding and Clotting Disorders Institute, Peoria, IL US | Principal Investigator |
| Johannes Oldenburg, MD, Ph.D | University Clinic, Bonn | Principal Investigator |
| D020147 | Coagulation Protein Disorders |
| D006474 | Hemorrhagic Disorders |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |