Genetic Susceptibility to Factor VIII Inhibitors

NCT00344435 | Completed

• 2 other identifiers: 99990516005-C-N160
• Study Type: observational
• Target: 1,187
• Locations: 1 country
• Sites: 1

Brief Summary

This international study will identify genetic factors that may influence the development of inhibitory antibodies in patients with hemophilia A after treatment with factor VIII. Bleeding episodes in patients with inhibitors are often more difficult to treat. Previous research indicates that genetic factors play a role in the development of inhibitors. A better understanding of the influence of genes in this treatment complication may be helpful in predicting, treating or preventing inhibitors. People in families in which one or more members have severe factor VIII deficiency and one or more have a history of an inhibitor may be eligible for this study. Participants fill out a form with questions about the person's relationship to other family members taking part in the study. Those with hemophilia provide a brief medical history, including hemophilia-related information, inhibitor history and the presence of other conditions such as hepatitis C and HIV. All participants have a blood sample taken for laboratory and research tests.

Conditions

Hemophilia

Keywords

Hemophilia; Antibody; Mutations; SNP; clotting

Outcome Measures

Primary Outcomes (1)

• Collection from 3500 donors

  Every six months

Eligibility Criteria

• Age: 1 Year - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• DNA and relevant clinical data from properly consented hemophiliac subjects and family members (maximum estimated = 3500) will be provided to the LGD for genotyping and analysis.

You may not qualify if:

• No available subjects will be excluded to maximize power.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

University Hospital, University of Lund

Malmo, Sweden

Location

Related Publications (3)

• Vermylen J. How do some haemophiliacs develop inhibitors? Haemophilia. 1998 Jul;4(4):538-42. doi: 10.1046/j.1365-2516.1998.440538.x.

  PMID: 9873790 BACKGROUND

• Frommel D, Allain JP. Genetic predisposition to develop factor VIII antibody in classic hemophilia. Clin Immunol Immunopathol. 1977 Jul;8(1):34-8. doi: 10.1016/0090-1229(77)90089-7. No abstract available.

  PMID: 880746 BACKGROUND

• Astermark J, Berntorp E, White GC, Kroner BL; MIBS Study Group. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia. 2001 May;7(3):267-72. doi: 10.1046/j.1365-2516.2001.00510.x.

  PMID: 11380630 BACKGROUND

MeSH Terms

Conditions

Hemophilia A; Thrombosis

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; Embolism and Thrombosis; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Janelle Cortner, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 23, 2006
• First Posted: June 26, 2006
• Study Start: May 24, 2005
• Study Completion: April 5, 2016
• Last Updated: April 5, 2018

Record last verified: 2016-04-05

Locations

SE (1)