The United Mitochondrial Disease Foundation is proud to report on the successes of the research projects funded through the hard work, dedication, and fundraising activities performed by our volunteers.


                                          Dr. Bridget Bax

" I would like to thake this opportunity to thank the UMDF for supporting this study.  Without this funding, we would not have been able to progress the project to the stage it is today.  We look forward to keeping the UMDF updated with the theraeutic approach."

 

 Bridget Elizabeth Bax, PhD
St. George's University of London

2008 Research Award: $116,428

“Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with mitochondrial neurogastrointestional encephalomyopathy.”

Project: Dr. Bax and her colleagues at St. George’s University of London are conducting clinical research funded by the UMDF to investigate potential therapies for MNGIE. They are specifically interested in developing a form of enzyme replacement therapy for these patients. Using a novel approach called erythrocyte encapsulation they are supplying the missing enzyme to patients through use of their own treated red blood cells. This is significant because there is currently no means of ridding patients of the toxic compounds that accumulate because of the absence of thymidine phophorylase.

Result of the UMDF Grant:  On the basis of an outline application submitted to the Medical Research Council (MRC) in 2009 for conducting pre-clinical safety studies of erythrocyte encapsulated thymidine phosphorylase, the investigators were invited to submit a full application to the Developmental Pathway Funding Scheme. This application was successful and we were awarded $1,265,185 in July 2010. In September 2010 we were awarded $22,869 to conduct a pilot study to identify potential plasma biomarkers for monitoring disease progression and treatment efficacy in MNGIE.  In December 2010 we submitted an outline application to the Muscular Dystrophy Campaign to fund a more in depth proteomics study; we were invited to submit a full application in February 2011 and the outcome will be known in July 2011.