Karsten Carter suffers from XIAP deficiency, an exceptionally rare genetic condition that weakens the immune system. He is now 40, but since early childhood he has suffered from frequent infections, abscesses and severe gut inflammation needing multiple operations and long spells in hospital. XIAP deficiency occurs when mutations in the XIAP gene disrupt the body's ability to regulate immune responses. It is estimated to affect approximately 1 in 1,000,000 individuals in the UK - primarily males due to its link to the X chromosome. When it affects the bowel, it is usually mistaken for very severe Crohn’s disease, a form of inflammatory bowel disease (IBD).
Treatment of XIAP deficiency has focused on managing symptoms, controlling inflammation and treating complications. Long courses of steroids, as well as all the advanced therapies for Crohn’s disease have been tried, including stem cell (bone marrow) transplantation. Although two patients in Oxford have successfully been treated by a stem cell transplant, it carries a very high (25%) risk of mortality. So, Karsten is trying a new, experimental drug on a pioneering study at NDORMS, University of Oxford. The drug is called camoteskimab, a monoclonal antibody which targets a molecule called interleukin-18 (IL-18) that drives inflammation when the XIAP brakes controlling IL-18 come off. Camoteskimab is being developed by British company Apollo Therapeutics that is based in Oxford and Cambridge.
Under the care of Professor Simon Travis and Professor Holm Uhlig, the first dose of treatment was delivered at the Oxford Experimental Medicine Clinical Research Facility (EMCRF), part of the NIHR Oxford Clinical Research Facility (CRF). The EMCRF provides a resource for early phase, experimental research across the Medical Sciences Division at the University of Oxford and the OUH NHS Trust.