Hemophilia
Conditions
Keywords
Hemophilia, Antibody, Mutations, SNP, clotting
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.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Collection from 3500 donors | Every six months |
Countries
Sweden