EHE Research Updates
EHE Mouse Model
Currently, there is no known mouse model available for EHE. Over the past two years Dr. Rubin worked diligently with other specialists to produce a genetically modified mouse model affected by EHE. Dr. Rubin accomplished this by genetically modifying the mice so they have the key WWTR1(TAZ)-CAMTA1 EHE gene mutation and will produce the fusion gene believed to drive EHE. In early 2017, Dr. Rubin’s team managed to achieve germline transmission of the gene mutation in the mice (the transfer of the gene mutation from the parents to their young during reproduction). These mice were bred and allowed to grow, and Dr. Rubin’s team will soon discover if the offspring developed EHE tumors. If they have, we may finally have an EHE mouse model that can be bred and shared with other interested researchers to understand the disease. Of course, this would be a huge step forward.
Therapeutic Drug Screening
Dr. Che, a member of Dr. Rubin’s team, has been working to develop a drug screening assay to test a large number of potentially therapeutic compounds to see if they have any impact on the WWTR1(TAZ)-CAMTA1 fusion protein that is believed to be a key driver of EHE. The assay is now complete and screening is underway! This project also has a special place for our group as Dr. Che is the post-doc that Dr. Rubin was able to recruit with the funds we provided in 2016.
Mekinist Drug Trial
2017 saw the launch of the Mekinist (Trametinib) clinical trial for EHE patients with progressing EHE. This is the multi-institutional-trial that Dr. Rubin alerted the group to earlier in the year. The trial is led by the Principal Investigator, Dr. Schuetze, from University of Michigan. This trial is designed based on Dr Rubin's preclinical research on EHE biology. The first arm of the trial is complete and we are waiting for the results. If at least one patient shows at least 30% shrinkage, the second arm of the trial will be open. The EHE Group provided funding for the biopsies that Dr. Rubin hopes patients will agree to, so the real impact of Mekinist on EHE cells can be understood.
As part of The EHE Foundation’s patient support role, we also established a confidential online support group for the patients participating in the study.
Circulating Biomarkers Program
Sometimes patients’ EHE progresses without significant changes on their scans and the window of opportunity for prompt initiation of treatment is missed. This is one of EHE’s most significant challenges. Therefore, The EHE Foundation initiated discussion about Circulating Biomarkers program in collaboration with Mayo Clinic. There are several blood circulating biomarkers that might be useful for monitoring EHE progression (or response to treatment), so we are focusing on circulating DNA as a first step. The discussions are ongoing with Dr. M. Liu from Mayo Clinic.
Tissue and Blood Biobank
Tissue availability for research is a serious challenge with rare cancers. Our research coordinator Denise Robinson has teamed up with Dr. Rubin to establish an EHE tissue/blood bank and they are making significant progress.