Natural History Study of Factor IX Treatment and Complications

NCT02502409 | Unknown

• 1 other identifier: B-Natural
• Study Type: observational
• Target: 550
• Locations: 1 country
• Sites: 1

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.

Conditions

Factor IX Deficiency

Keywords

Hemophilia B; Hemophilia B with Inhibitors

Outcome Measures

Primary Outcomes (7)

• 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 Outcomes (4)

• Factor IX usage

  6 months

• Number of hospitalizations

  6 months

• Number of surgical procedures

  6 months

• number of days missed from school or work

  6 months

Interventions

Standard care with blood and urine sample collection OTHER

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Skane University Hospital: lead
• Indiana Hemophilia &Thrombosis Center, Inc.: collaborator
• Bioverativ Therapeutics Inc.: collaborator
• Swedish Orphan Biovitrum: collaborator

Study Sites (1)

Indiana Hemophilia & Thrombosis Center

Indianapolis, Indiana, 46260, United States

Location

Related Publications (1)

• 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.

  PMID: 33278853 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Serum, plasma, cells

MeSH Terms

Conditions

Hemophilia B

Interventions

Standard of Care; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• 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

  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

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, Data Coordinating Center, Rho, Inc.

Study Record Dates

• First Submitted: July 13, 2015
• First Posted: July 20, 2015
• Study Start: July 1, 2015
• Primary Completion: June 1, 2019
• Study Completion: December 1, 2021
• Last Updated: May 25, 2021

Record last verified: 2021-05

Locations

US (1)