F8 gene variant analysis

Does F8 gene variant impact ITI outcome?

The type of F8 gene variant (mutation) is an established risk factor for inhibitor development in patients with haemophilia A1,2. Variants that cause a complete lack of protein expression are associated with a higher risk of inhibitor development3.

There is some evidence that F8 variant type also impacts ITI success, but this association remains poorly understood4.

ITI success rate according to F8 mutation class in patients with severe haemolophilia A and inhibitors 

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F8 gene variant analysis sub-study

Sub-study lead investigators

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Johannes Oldenburg

Director, Institute for Experimental Haematology and Transfusion Medicine (IHT),
Bonn, Germany

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Anna Pavlova

Head of Molecular Haemostaseology Laboratory, Institute for Experimental Haematology and Transfusion Medicine (IHT),
Bonn, Germany

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Barbara Konkle

Director, Hemostasis, Platelet Immunology and Genomics Lab, Bloodworks Northwest, and Professor of Medicine, University of Washington School of Medicine,
Seattle, WA, US

MOTIVATE will investigate whether specific F8 gene variants impact clinical outcomes with the different treatment approaches.

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What is needed for this analysis?

A blood sample of 5 mL at any time

  1. Gouw SC et al. <i>Blood</i> 2012; 199:2922-34
  2. Oldenburg J and Pavlova A. <i>Haemophilia</i> 2006; 12:15-22
  3. Garagiola I et al. <i>Thromb Res</i> 2018; 168:20-7
  4. Coppola A et al. <i>J Thromb Haemost</i> 2009; 7:1809-15

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