Cystinosis Research Foundation
PROGRAMS
Grant Funding for Cystinosis Research
The Cystinosis Research Foundation’s mission is to support bench, clinical, and translational cystinosis research to find better treatments and a cure for cystinosis. Funding quality cystinosis research studies remains a priority and is an ongoing process. The CRF is the largest provider of cystinosis research grants in the world. CRF announces global calls for research proposals bi-annually in the spring and fall of each year. After review and recommendations by our Scientific Review Board, research grants are issued. In 2023, CRF announced 12 new grant awards totaling $2,959,574 to institutions in Canada, Israel, France, Germany, Italy, Switzerland, and the United States. Since 2003, CRF has awarded 245 research grants in 13 countries. We have single-handedly created a thriving cystinosis research community through our funding efforts.
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 $6.1 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.
CRF is also funding research that is focused on a new delivery system for cysteamine as a treatment for corneal cystinosis, the painful eye condition that causes photophobia, and sometimes blindness as our children reach adulthood. The current treatment for corneal cystinosis is rigorous and requires hourly dosing of medicated eye drops. The eye drops are painful to the eye and compliance is difficult. Morgan DiLeo, PhD, who is at the University of Pittsburgh, is working on a thermoresponsive hydrogel that contains cysteamine-loaded microspheres that transform a liquid into a gel once it is dropped into the eye. It appears that one drop will provide a full day of therapy. Dr. DiLeo and her team will be applying to the FDA to begin a clinical trial next year.
CRF International Cystinosis Research Symposium
The CRF International Symposium is held every other year. All scientists and researchers who have received funding from the Cystinosis Research Foundation are invited to attend to share their findings and report on their progress. It is an opportunity for brilliant minds to collaborate toward our ultimate goals of finding better treatments and a cure for cystinosis. Today, CRF is the largest provider of grants for cystinosis research in the world. CRF-funded researchers are making great progress in both better treatments and a cure for cystinosis, and their work is applicable to other diseases and disorders, including Friedreich's Ataxia, Danon disease, eye diseases, and genetic diseases similar to cystinosis.
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.
Progress in our Quest for the Cure
In 2018 Stephanie Cherqui, PhD at UC San Diego submitted the Investigational New Drug Application to the FDA for a clinical trial for cystinosis using her research on stem cell and gene therapy treatment 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.
CONTACT
Cystinosis Research Foundation
19200 Von Karman Avenue
Suite 920
Irvine, CA 92612
Phone: 949-223-7610