Official Title
Factor VIII Inhibitor Formation: Identifying Predisposing Genetic Factors
Brief Title
Genetic Susceptibility to Factor VIII Inhibitors
Protocol ID
NCT00344435
Lead Sponsor
National Cancer Institute (NCI)
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.
Detailed Description
In collaboration with investigators of the Hemophilia Inhibitor Genetic Study (HIGS)
multicenter study and the University of Lund, University Hospital, Malmo, Sweden, we
propose to assess the role of genetic variants in the process of developing inhibitors to
Factor VIII in persons with hemophilia. The discovery of genetic associations offers the
potential to direct clinical management in order to prevent inhibitor development and
improve clinical care in patients with inhibitors.
Study Period
-
Enrollment Count
1,187 participants
Eligibility Criteria
- INCLUSION CRITERIA
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.
EXCLUSION CRITERIA
No available subjects will be excluded to maximize power.
Filters
Hemophilia
COMPLETED
CHILD
ADULT
OLDER_ADULT