Bridget Bax

Background

About Bridget Bax

The research focus of Dr Bridget Bax and her team is two-fold: firstly to improve the understanding of the underlying pathogenic mechanisms of rare inherited diseases and secondly, to develop cell-based therapies for the treatment of diseases with unmet needs. Currently the team are studying the ultra-rare disease, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive metabolic disorder caused by mutations in the gene (TYMP) which encodes for thymidine phosphorylase, an enzyme involved in the pyrimidine salvage pathway. By employing patient-derived induced pluripotent stem cell (iPSCs) technology, the team have developed neuronal cell lines and three dimensional organoid culture models of MNGIE for studying the molecular mechanisms involved in the neuronal aspects of the disease. Another area of research is the application of expression profiling and bioinformatics analyses in the identification and validation of miRNA biomarkers in patient body fluids for providing a means of monitoring responses to therapy and following disease progression. The team have developed the autologous erythrocyte as a vehicle for delivering enzyme replacement therapies and other therapeutic proteins. The encapsulation technology has the advantage of prolonging the circulatory half-life of proteins, minimizing immunogenic reactions and negating the need for expensive chemical modification. Dr Bax conceptualised the introduction of erythrocyte-mediated enzyme replacement therapy into a clinical setting in 1995 through the treatment of an adult patient with adenosine deaminase deficiency. She managed a contract with the Hampshire Primary Care Trust on behalf of the South of England Specialised Commissioning group for 18 years for the treatment this patient. Dr Bax subsequently applied this platform technology to the compassionate treatment of patients with MNGIE, in the form of erythrocyte encapsulated thymidine phosphorylase (EE-TP). Orphan Drug Designation was granted for EE-TP by the Food and Drug Administration (USA) and European Medicines Agency. Approval for a clinical trial of EE-TP in the UK was recently granted by the Medicines and Healthcare products Regulatory Agency (MHRA) https://clinicaltrials.gov/ct2/show/NCT03866954. Efforts are in progress to extend trials to other European countries. The technology is exclusively licensed to Orphan Technologies and three patents for the treatment of MNGIE are filed in the UK, Europe and the USA.