First-in-Human Mitochondrial Augmentation of Hematopoietic Stem Cells in Pearson Syndrome

Conclusion:We report a first in human study with a novel form of cellular therapy, mitochondrial augmentation, in which we enrich HSCs with organelles encoding non-mutated version of the mtDNA sequence. We show the ability of mitochondrial augmentation to improve in vitro PS-derived HSC function, and improvement in metabolic determinants, aerobic capacity and quality of life of two patients treated. Together, these preliminary clinical data suggest that mitochondrial augmentation therapy is safe, and may alter the clinical course for patients with mitochondrial deletions/mutations including PS.FigureDisclosuresJacoby: Novartis Israel: Consultancy. Blumkin: Minovia Therapeutics: Employment. Sher: Minovia Therapeutics: Employment. Yivgi Ohana: Minovia Therapeutics: Employment. Toren: Novartis Israel: Consultancy.

Source: Blood - November 21, 2018 Category: Hematology Authors: Jacoby, E., Blumkin, M., Anikster, Y., Varda-Bloom, N., Pansheen, J., Bar Yoseph, O., Gruber, N., Lahav, E., Besser, M. J., Schachter, J., Sher, N., Yivgi Ohana, N., Toren, A. Tags: 801. Gene Therapy and Transfer: Gene Therapy for Blood Cell Disorders Source Type: research