A new chapter in cystinosis research has begun. Novartis has officially opened the next phase of its CYStem Phase I/II clinical trial, now enrolling children between 2 and 5 years old diagnosed with nephropathic cystinosis. The study represents a hopeful step forward in the development of an autologous stem cell and gene therapy aimed at addressing cystinosis at its genetic root. You can view the official trial listing here. On May 1, 2025, Novartis announced the first clinical trial site: Emory University in Atlanta, Georgia.
This moment is the result of years of work across the cystinosis community—researchers, patients, funders, and families. The foundation for this trial was laid through early and sustained investment in the science by the Cystinosis Research Foundation (CRF). Their support for Dr. Stéphanie Cherqui’s pioneering vision made it possible for the research to progress from the lab to the clinic, culminating in the treatment of adult patients in the earlier phase. Those patients’ willingness to participate—and the encouraging outcomes that followed—have made it possible for this therapy to now be studied in young children.
At the Cystinosis Research Network (CRN), we are deeply encouraged by this progress. While our mission is distinct from that of the research funders, we work every day to support families living with cystinosis—connecting them to resources, advocating for their needs, and helping them navigate the realities of life with a rare disease. We know how much this news means to the parents of young children with cystinosis who wonder what options the future might hold.
We’re grateful to Novartis for engaging with the cystinosis community in meaningful ways as this trial expands. As always, CRN remains committed to walking alongside families as science moves forward—celebrating progress, holding space for uncertainty, and offering support in every season.
This trial represents not only a medical milestone, but also a deeply personal one for so many. Our community continues to move forward—together.