Continuing to fund the National UK Chordoma Cohort Study
A lot of progress has been made over the last year. In January 2018, Understanding Chordoma: A National Cohort Study opened at centers across England. More than 50 participants with a diagnosis of chordoma have joined the study since then. Participants are being followed for up to eight years after enrolment, during which time clinical data is collected alongside tissue samples and blood samples. These samples are/ will be genetically analysed to provide more information about what we know about what causes and drives chordoma, and why is it resistant to many therapies. The aim of the study is to understand the molecular basis of the disease so that we can develop new tests for early diagnosis, treatment and surveillance.
Since the study opened, over 25 tumor samples have been submitted for whole genome sequencing, RNA sequencing and methylation analysis. A manuscript has also submitted which goes some way to explain regulation of brachyury (TBXT) in chordoma; the study has also identified a ‘tool’ compound which appears to silence brachyury (TBXT) in the laboratory. Work is now needed with Pharmaceutical companies to see if such tool compounds can be transformed into therapies for the clinic – this is not an easy task – but progress has been made. This manuscript is: “Epigenetic inactivation of oncogenic brachyury (TBXT) by H3K27 histone demethylase controls chordoma cell survival” (bioRxiv 432005; doi: https://doi.org/10.1101/432005.)
The National Cohort Study has initiated the formation of a UK network comprising of patients, their families and medical health care workers, through which it aims to deliver a better and a more standardised management of patients with chordoma, in both children and adults. The hope is that this chordoma network will be the legacy of the study, facilitating the sharing of expertise in this rare disease for years to come. At present, a Clinical Research Fellow, funded by Chordoma UK, travels to centers to meet teams and help to establish the network. The Chordoma Foundation along with The Drew Barker-Wright Charity supports the basic research associated with the National UK Cohort Chordoma Study. The Drew Barker-Wright Charity has a specific focus on Paediatric Chordoma.
The research program involves the recruitment of patients with chordoma of all ages. There is a focus on undertaking research on chordoma from paediatric patients. However, the rare occurrence of chordoma in children makes this challenging but, it is believed that understanding chordoma occurring in any age group would be beneficial to the chordoma patient and health care community at large.
This year will see more centers opening in the National Cohort Study, with further recruitment; working hard to strengthen and expand the clinical network with a focus on centers that see paediatric patients with chordoma. Finally, the project looks forward to analysing the results generated during the past twelve months and sharing these findings.