Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease
Dr. Michael Portman recently presented findings from a groundbreaking study on Kawasaki disease (KD) at the Seattle Children’s Hospital KD Clinic. The study involved a whole genome sequencing of hundreds of thousands of KD patients to identify the genes responsible for the non-response of 20-30% of children diagnosed with the disease who require additional IVIG treatment or additional treatments due to persistent fever. Of the study’s dataset, 150 subjects did not respond to IVIG treatment. The researchers found many gene mutations that could be responsible for the IVIG non-response. In a separate analysis, the researchers also looked at subjects who had IVIG treatment but still resulted in aneurysms. The study did not take blood type into account as a factor, but instead looked at single nucleotide changes as part of the gene, in a non-biased comparison, not within a specific gene.
The findings of the study have the potential to change the way KD patients receive treatment, as genes can now be used as a predictor of response. In the future, a rapid genetic test could be used to determine if a patient is predicted to have a non-response to IVIG, allowing for treatment adjustments. Dr. Portman also shared that there is still much we don’t know about the mechanisms of IVIG actions and KD, which could lead to the development of new therapies. This research is the first step towards finding alternate treatments for KD. Finally, Dr. Portman expressed his gratitude to the Foundation for supporting this research and supplementing NIH funding.