Cystinosis Research Foundation

The Cystinosis Research Foundation’s mission is to support bench, clinical and translational research to find better treatments and a cure for cystinosis. Today, CRF is the largest fund provider of grants for cystinosis research in the world, issuing 213 grants in 12 countries.

CRF has raised $63 million, with 100% of funds going toward cystinosis research. Key among their groundbreaking investments is an FDA-approved gene therapy and stem cell transplant clinical trial at UC San Diego that has thus far proven to halt the disease in its tracks.

Continued funding and support is critical to ensure better treatment and ultimately a cure.

CRF-funded research has an impact on other more prevalent diseases and disorders; discoveries made are being applied to Friedreich’s Ataxia, Danon disease, corneal diseases, kidney diseases and genetic and systemic diseases similar to cystinosis

Significant CRF milestones include but are not limited to:

  • FDA approval of a stem cell and gene therapy clinical trial. In November 2018 the FDA approved the first stem cell and gene therapy clinical trial for six adult patients. The trial is based on the work of Stéphanie Cherqui, PhD at the University of California, San Diego. Between 2019 and 2022, five patients were transplanted. All five patients are doing well and remain off oral cysteamine treatment since their transplants. The sixth and final patient in the Phase I and Phase II trial is expected to be transplanted by the end of 2022. CRF was the early and sole fund provider of Dr. Cherqui’s work. The seed money CRF provided was eventually leveraged by multi-million-dollar grants to Dr. Cherqui from other funding agencies. The cystinosis community is hopeful that this potential one-time treatment will stop the progression of cystinosis and perhaps be the cure.

  • CRF grants have led to numerous clinical trials in areas of important research including novel therapeutic treatments, kidney disease, neurological disease and muscle wasting.

  • FDA approval of a new treatment. The CRF funded every bench study and early clinical trials at the University of California, San Diego (UCSD) which resulted in the development of a slow-release form of cysteamine. On April 30, 2013 the FDA approved the new drug Procysbi®.

  • CRF established the first international biennial symposium for cystinosis researchers and scientists. The symposiums have created a synergistic and collaborative scientific community.

  • In 2006, the CRF established the first Cystinosis Research Fellowship Program designed to support scientists and new researchers who have an interest in cystinosis research. The program has yielded many new researchers committed to the field of cystinosis.

Learn more about CRF here.