An investigational therapy for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

What is MNGIE?

 Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. Patients with MNGIE have mutations in their TYMP gene which is involved in the production of an enzyme called thymidine phosphorylase. Patients with MNGIE often begin to have symptoms in their early adolescence. These symptoms are often gastrointestinal and/or neurologic in nature. Patients are frequently misdiagnosed with anorexia, Crohn’s disease, or inflammatory bowel syndrome.

Orphan Technologies has partnered with Saint George’s University of London to develop an innovative and highly specialized cell-based and personalized enzyme replacement therapy. This technology was invented by Bridget Bax, Ph.D one of the world’s leading authorities on MNGIE. It addresses the fundamental problem in MNGIE by replacing the deficient enzyme and hopefully preventing or reversing the severe and life-threatening complications. Several patients with urgent medical needs have obtained access to the investigational therapy through compassionate use treatment. OT-15 has been granted orphan designation by both FDA and EMA.