allogeneic hematopoietic stem cells (Columbia University)

Allogeneic hematopoietic stem cell transplantation (AHSCT) is an investigational cell therapy being evaluated by Dr. Michio Hirano at Columbia University Medical Center for the treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE). MNGIE is a rare, fatal metabolic disorder caused by mutations in the TYMP gene, which leads to a deficiency in the enzyme thymidine phosphorylase (TP). This deficiency results in the systemic accumulation of thymidine and deoxyuridine, causing mitochondrial DNA instability and subsequent multi-organ failure, primarily affecting the gastrointestinal and nervous systems. The therapy involves transplanting HLA-matched donor hematopoietic stem cells to provide a continuous source of functional thymidine phosphorylase, thereby reducing toxic nucleoside levels and potentially improving clinical outcomes such as body mass index and neurological function.

Other names

AHSCTallogeneic hematopoietic stem cell transplantationbone marrow transplant for MNGIE