Research Overview

The Cystinosis Research Foundation’s mission is two-fold and focused: 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 two global calls for research proposals in the spring and fall of each year.  After evaluation by our Scientific Review Board, research grants are issued.  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. 

To date, the CRF has funded and committed over $14.9 million to cystinosis research and has funded 90 research studies and fellowships in 9 countries.  Today, with the support of our 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.

We have reached important CRF milestones in research developments and significant advancements in the treatment of cystinosis.  The CRF research funded at the University of California, San Diego (UCSD) has resulted in the development of a slow-release form of cysteamine.   Raptor Pharmaceuticals, Inc. acquired the worldwide license for the slow-release form of cysteamine from UCSD. Raptor Pharmaceuticals has completed the Phase 3 clinical trials of RP103 the delayed-release oral formulation of cysteamine, (DR Cysteamine) in 41 patients with cystinosis.  A report on the data from the RP103 trial was announced in 2011.  The extension phase of the clinical trial, in which all patients completing the Phase 3 study may elect to continue on DR Cysteamine therapy, is ongoing. Raptor anticipates FDA approval of the new drug in early 2012.  The slow-release medication will be a reality for all of our children in the near future.  The Cystinosis Research Foundation’s primary focus is to find a cure for cystinosis. 

In April 2009, we met with a team of CRF-funded scientists from Scripps Institute in La Jolla, who presented us with a plan that will lead to clinical trials in children with cystinosis within the next five years.  The clinical trials will test new gene therapies that they believe could lead to a cure for cystinosis.  This plan holds the first real promise that a cure for cystinosis is a possibility.

the 3rd CRF International Cystinosis Research Symposium will be held March 29 - 30, 2012 at the prestigious Arnold and Mabel Beckman Center of the National Academies of Engineering and Science on the UCI campus. The event will be attended by more than 60 researchers from the United States and Europe who have been working to achieve better treatments and a cure for cystinosis.  

“The symposium is very important for cystinosis because many of the participants will be sharing information on their research efforts – information that generally isn’t shared until it’s published, which often takes months or years. This can only help accelerate new medical and scientific advancements we’ve been working to achieve for so many years,” commented Dr. Jerry Schneider, honorary chairman of the symposium.