erythrocyte encapsulated thymidine phosphorylase

Erythrocyte encapsulated thymidine phosphorylase (EE-TP) is an experimental enzyme replacement therapy (ERT) developed for the treatment of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is an ultra-rare, autosomal recessive metabolic disorder caused by mutations in the TYMP gene, which lead to a deficiency of the enzyme thymidine phosphorylase. This deficiency results in the systemic accumulation of thymidine and 2'-deoxyuridine, causing mitochondrial DNA damage and multi-organ failure. EE-TP involves an ex vivo process where recombinant Escherichia coli thymidine phosphorylase is encapsulated within the patient's own autologous erythrocytes using a specialized Red Cell Loader device. These engineered erythrocytes act as circulating bioreactors; toxic metabolites enter the cells through equilibrated transporters and are degraded by the internal enzyme, thereby reducing systemic levels. This delivery method is designed to provide sustained enzymatic activity and protect the foreign enzyme from immune recognition.

Other names

erythrocyte-encapsulated thymidine phosphorylaseerythrocyte encapsulated Escherichia coli thymidine phosphorylase