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ASGCT 2021 | CTNS-RD-04: HSC gene therapy for cystinosis

Currently, cystine depleting therapy using cysteamine is used to treat cystinosis, however, this is a very difficult, non-curative treatment regimen associated with numerous side effects. Stephanie Cherqui, PhD, University of California, San Diego, La Jolla, CA, discusses the updated results of an ongoing Phase I/II trial (NCT03897361) investigating the efficacy of CTNS-RD-04, a novel autologous hematopoietic stem and progenitor cell (HSPC)-based gene therapy, in patients with cystinosis. In the first three male patients treated, CTNS-RD-04 was found to decrease cystine crystal formation, decrease cystine content in white blood cells and improve photophobia. This interview took place during the American Society for Cell & Gene Therapy 24th Annual Meeting 2021.


Stephanie Cherqui is inventor on a patent entitled “Methods of treating mitochondrial disorders” (#20378-201301) and is a cofounder, shareholder and a member of both the Scientific Board and Board of Directors of Stelios Therapeutics Inc. Stephanie Cherqui serves as a consultant for AVROBIO and receives compensation for these services. Stephanie Cherqui also serves as a member of the Scientific Review Board and Board of Trustees of the Cystinosis Research Foundation. The terms of this arrangement have been reviewed and approved by the University of California San Diego in accordance with its conflict of interest policies.