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

Video

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.

REFERENCE
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
Recent Videos
Robert Califf, MD, MACC, a cardiologist and former FDA commissioner
Natalie Goedeker, CPNP, on Handling Neuromuscular Gene Therapy at Real-World Sites
David-Alexandre C. Gros, MD, Eledon’s chief executive officer
Michael Flanagan, PhD, chief scientific officer at Avidity
David Barrett, JD, the chief executive officer of ASGCT
David-Alexandre C. Gros, MD, Eledon’s chief executive officer
David Barrett, JD, the chief executive officer of ASGCT
Alfred L. Garfall, MD, MS, associate professor of medicine (hematology-oncology) and director, Autologous Hematopoietic Cell Transplantation, Cell Therapy and Transplant Program, Hospital of the University of Pennsylvania; and section chief, Multiple Myeloma, Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania,
Reena Sharma, MD, an adult metabolic consultant at Salford Royal Hospital
Nirav Shah, MD, MSHP, associate professor of medicine, at the Medical College of Wisconsin
© 2025 MJH Life Sciences

All rights reserved.