Stephanie Cherqui, PhD, on Bringing Attention to Cystinosis and Gene Therapy


The associate professor from UC San Diego discussed promising efficacy and safety data from a phase 1/2 trial.

"I have been very happily surprised to see more and more physicians contacting me and saying they have patients with cystinosis and are very interested to be part of the next phase when the trial will be multicenter and this is really good to see. So, there is a growing interest from physicians to our gene therapy.”

AVROBIO's CTNS-RD-04 is being evaluated in an ongoing phase 1/2 trial (NCT03897361) for the potential treatment of cystinosis. The autologous, lentiviral, CD34+ cell therapy encodes forcystinosin to prevent the buildup of cysteine crystals.

Principal investigator Stephanie Cherqui, PhD, associate professor, University of California – San Diego, presented interim data from the first 3 patients treated in the trial at the 18th Annual WORLDSymposium, February 7-11, 2022, in San Diego, California. All patients exhibited a decrease in white blood cell cystine and are no longer taking oral cysteamine and promising decreases in cystine were noted in the cornea, skin, and kidneys. The therapy has been well-tolerated and no treatment-related adverse events (AEs) or serious AEs have been reported.

CGTLive spoke with Cherqui to learn more about the efficacy and safety data seen in the trial so far. She also discussed a growing clinician interest in the therapy and cystinosis itself.

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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