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Genetic Susceptibility to Factor VIII Inhibitors

Factor VIII Inhibitor Formation: Identifying Predisposing Genetic Factors

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT00344435
Enrollment
1187
Registered
2006-06-26
Start date
2005-05-24
Completion date
2016-04-05
Last updated
2018-04-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hemophilia

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

National Cancer Institute (NCI)
Lead SponsorNIH

Study design

Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL

Eligibility

Sex/Gender
ALL
Age
1 Years to 100 Years
Healthy volunteers
No

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

MeasureTime frame
Collection from 3500 donorsEvery six months

Countries

Sweden

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026