Cystinosis Research Foundation

Through our aggressively funded research agenda, the Cystinosis Research Foundation issues grants for bench and clinical research studies bi-annually in order to accelerate research progress and ensure that cystinosis research is ongoing and focused on novel treatments and a cure. The Cystinosis Research Foundation is dedicated to educating the public and the medical community about cystinosis to ensure early diagnosis and proper treatment. CRF is the largest private fund provider of cystinosis research grants in the world. CRF has raised over $60 million for cystinosis research. It has awarded 220 multi-year grants and is funding researchers in 12 countries.
The CRF was established with the sole purpose of raising funds to find better treatments and a cure for cystinosis.

Funding quality cystinosis research studies remains a priority and is an ongoing process. The 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 2006, CRF established the first Cystinosis Research Fellowship Program designed to support scientists and new researchers who have an interest in cystinosis research.
In 2020, CRF funded more than $3 million for 23 cystinosis research studies covering muscle wasting, new drug discoveries, stem cell therapy, corneal cystinosis treatment, cognitive dysfunction, and molecular mechanisms in cystinosis.

Today, with the support of our cystinosis family partners, friends and community we have significantly changed the course of cystinosis research. Our funding efforts have allowed talented doctors and researchers in the area of cystinosis to initiate novel research studies and to advance their research efforts. in 2020, CRF funded $3,150,914 for 23 new research studies which included 14 new grants, 8 extension grants, and 1 equipment grant. CRF is the largest private fund provider of cystinosis research in the world.

In 2018 the FDA approved a stem cell and gene therapy clinical trial for cystinosis. In October 2019, the first patient was transplanted, in June 2020 the second patient was transplanted and in November 2020, the third patient was transplanted. We are pleased to report that all three patients are doing well and are off cysteamine treatment. We are optimistic that this treatment will stop the progression of cystinosis or be the cure for cystinosis. We are thankful to Dr. Cherqui of the University of California, San Diego who has dedicated her career to finding a cure for cystinosis and leading the clinical trial.

CRF's dedication to educating the public and the medical community about cystinosis to ensure early diagnosis and proper treatment has made a tremendous difference by improving the quality of life for numerous patients and families around the world. One accomplishment began with the CRF funded research at the University of California, San Diego (UCSD) which resulted in the development of a slow-release form of the drug cysteamine. On April 30, 2013, the FDA approved the new drug Procysbi™. To date, the CRF has funded and committed more than $60 million to cystinosis research and has awarded 204 research studies and fellowships in 12 countries.