The Potential Impact of Gene and Cell Therapy in Cystinosis: Stephanie Cherqui, PhD


The associate professor from UC San Diego discussed the curative potential of gene therapy in cystinosis.

“We hope to reach a point where patients will have only 1 stem cell gene therapy transplant that could potentially address all the complications and unmet needs in cystinosis.”

CTNS-RD-04 is an autologous, lentiviral, CD34+ cell therapy developed by AVROBIO encoding for cystinosin for the potential treatment of cystinosis. The therapy, developed by the lab of Stephanie Cherqui, PhD, associate professor, University of California – San Diego, is being evaluated for safety and efficacy in a phase 1/2 trial (NCT03897361).

Interim data from the first 3 patients treated in the trial were presented by Cherqui at 18th Annual WORLDSymposium, February 7-11, 2022, in San Diego, California. No treatment-related adverse events (AEs) or serious AEs have been reported. All patients exhibited a decrease in white blood cell cystine and are no longer taking oral cysteamine. Promising decreases in cystine were also noted in the cornea, skin, and kidneys.

GeneTherapyLive spoke with Cherqui to learn more about the gene-edited cell therapy that her lab has developed. She discussed the need for curative therapies in cystinosis and the potential of gene and cell therapies to fulfill this need.

Cherqui S. Hematopoietic stem cell gene therapy for cystinosis: Updated results from a phase I/II clinical trial. Presented at: 18th Annual WORLDSymposium, February 7-11, 2022; San Diego, CA. Poster #46
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