Cystinosis Research Foundation

In 2007, CRF awarded the first of many grants to Stéphanie Cherqui, PhD, at the University of California, San Diego, for her stem cell and gene therapy work. Eleven years later, in November 2018, the FDA approved a clinical trial to test her treatment for six adult cystinosis patients. In October 2019, the first patient received the stem cell transplant treatment, with the second and third patients transplanted in 2020. In November 2021, the fourth patient was transplanted and in March 2022 the fifth patient received the stem cell treatment. The sixth and final patient received the treatment in October 2022, and today all six patients are doing well. CRF has awarded over $6.6 million in grants to Dr. Cherqui for her research. CRF's early funding allowed Dr. Cherqui to test her theories and collect enough preliminary data to present to larger funding agencies. Dr. Cherqui secured over $21.5 million in additional grants from other larger agencies including CIRM and the NIH for the stem cell and gene therapy treatment. It was CRF's seed money that launched this life-changing therapy. We are hopeful that this potential one-time treatment will stop the progression of cystinosis or perhaps be the cure.
• Stem Cell and Gene Therapy Clinical Trial
In May 2023, Novartis acquired the investigational autologous hematopoietic stem cell (HSC) gene therapy program for the treatment of cystinosis from AVROBIO. The next phase of the treatment will be conducted by Novartis. In April 2025, this statement was released to the cystinosis community. The next phase of the stem cell and gene therapy trial is open! This third phase is open to children aged 2 to 5.
Make no mistake, the road to the cure has required hard work, millions of dollars, and the unwavering commitment of families, patients, friends, and researchers. Our goal is a future without this rare disease called cystinosis.

The path to this milestone announcement started in 2007 when Stéphanie Cherqui, PhD, Professor at UC San Diego, said she believed she could find a cure for cystinosis. CRF took a risk and funded her work – we believed in her.

It is with gratitude that we thank Novartis and their cystinosis stem cell and gene therapy group for their commitment to our community, for listening to our voices about the burden of disease, quality of life, clinical trial design and most importantly, our plea to move quickly to ensure this treatment is approved for all those with cystinosis. We look forward to continuing to work with them during this next phase of the stem cell trial.
Novartis continues a close collaboration with the cystinosis community.

In April of 2025, Novartis announced the next phase of the stem cell and gene therapy trial is open. It is a day we have been waiting for – this phase of the trial will bring us closer to a cure for all children and adults with cystinosis. The trial is open to children aged 2 to 5 years with nephropathic cystinosis. Novartis has released a statement about the CYStem Phase I/II Clinical Trial in cystinosis that can be found on the CRF site https://www.cystinosisresearch.org/current-clinical-trials/ It is with gratitude that we thank Novartis and their cystinosis stem cell and gene therapy group for their commitment to our community, for listening to
our voices about the burden of disease, quality of life, clinical trial design and most importantly, our plea to move quickly to ensure this treatment is approved for all those with cystinosis. We look forward to continuing to work with them during this next phase of the stem cell trial.

We have reached important CRF milestones in research developments and significant advancements in the treatment of cystinosis. As a result of our efforts, there is now a thriving research community of hundreds of researchers around the world who work every day on behalf of our community. It is an opportunity for brilliant minds to collaborate toward our ultimate goals of finding better treatments and a cure for cystinosis.

In December 2018, the FDA approved human clinical trials for a stem cell and gene therapy treatment for cystinosis. We are grateful to the cystinosis patients who received the genetically modified autologous stem cell transplant. The first patient was transplanted in October 2019, the second patient was transplanted on June 29, 2020, and the third patient was transplanted on November 16, 2020. The fourth patient received the treatment on November 15, 2021, and on March 29, 2022, the fifth patient was transplanted. The sixth and final patient received the stem cell transplant on October 24 completing Phase I and II of the clinical trial. We thank all the patients for their courage and the bravery they have demonstrated being the first volunteers. The stem cell trial holds the first real promise of a cure for cystinosis.