St George’s, University of London researchers have been awarded £3.3million by the Medical Research Council to develop a new treatment for a deadly metabolic disorder.

The funding will be used to accelerate the clinical development of a drug therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a rare progressive disease that kills patients at an average age of 38.

MNGIE is caused by a defect in the gene responsible for production of the enzyme thymidine phosphorylase (TP). Without this enzyme, mitochondria – the parts of the body’s cells that create energy for the cells – cannot function properly, leading to problems with the nervous system and skeletal muscle. Symptoms of MNGIE include diarrhoea, constipation, gastroparesis, nausea, vomiting, weight loss, muscle weakness and nerve damage leading to loss of sensation and abnormal eye movements.

Globally, only 200 cases of MNGIE have been identified, but these are increasing and experts believe it has been underdiagnosed. The only current potential cure is a stem cell transplant technique, but this carries a high risk of death and most patients are ineligible as recruitment is restricted only to those with an optimal matched donor and without irreversible end-stage disease.

The new therapy is called erythrocyte encapsulated TP (EE-TP) technology, an innovative enzyme replacement treatment in which TP is introduced directly into patients’ red blood cells. Several patients with urgent medical needs have already been effectively treated with EE-TP through compassionate use treatment.

The St George’s researchers are led by Dr Bridget Bax, and they are working with industrial partner Orphan Technologies, a rare disease research-and-development firm.

Dr Bax said: “We are delighted with this award, which comes after several years of development. This would not have been possible without the help of the patients who volunteered to enter into pilot studies. We have put together a very experienced team here and in other hospitals in the UK and across Europe to undertake the development of this new treatment. We are excited with the potential that this therapy will become licensed therapy for this group of patients globally.

The new funding is part of the second round of the MRC’s £180million Biomedical Catalyst programme, a key part of the government’s Strategy for UK Life Sciences. The Biomedical Catalyst programme supports UK universities and businesses in developing new healthcare solutions from concept to commercialisation.

EE-TP has been granted orphan drug status in Europe and the United States. This is given to drugs being developed to treat rare conditions, and makes the regulatory process simpler than for common diseases.