Ami J. Shah, MD, on Reaching Normalized Hemoglobin With Gene-Edited Cell Therapy in PKD


The clinical professor of pediatrics at Stanford Medicine discussed positive interim findings from a phase 1 study of RP-L301.

“We expected some gradual improvement and we expected maybe they feel a little bit better. But we didn't really expect people to come out of this completely normal... [in terms of] side effects, they don't even feel like they had a transplant and... they can't remember this disease anymore.”

Patients with pyruvate kinase deficiency (PKD) treated with RP-L301, a gene-edited lentiviral mediated hematopoietic stem and progenitor cell therapy, reached normal levels of hemoglobin production, improved hemolysis and sustained transgene expression with no need for red blood cell transfusions at 1-year post infusion.

These data, from an ongoing phase 1 study (NCT04105166) presented at the 2022 American Society of Gene and Cell Therapy Annual Meeting, May 16-19, 2022, in Washington DC, by Ami J. Shah, MD, clinical professor of pediatrics, Division of Hematology/ Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford Medicine.

CGTLive spoke with Shah to learn more about the efficacy findings of the trial and the positive patient-reported outcomes. She also discussed the progress of the trial and the new pediatric cohort being enrolled.

Shah AJ, López Lorenzo JL, Navarro S, et al. Changing the treatment paradigm for pyruvate kinase deficiency with lentiviral mediated gene therapy: Interim results from an ongoing global phase 1 study. Presented at: ASGCT 25th Annual Meeting, May 16-19, 2022. Abstract #357
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