Research Progress

The Cystinosis Research Foundation’s mission is two-fold and focused: to find better treatments and a cure for cystinosis.  Funding quality 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 more than $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.  A group of leading researchers in stem call and gene therapies, molecular biology and clinical pathophysiology have formed the Cystinosis Research Foundation (CRF) Gene Therapy Consortium, with the goal to advance progress on the most promising current findings, including moving novel therapeutic modalities into human patients as quickly as possible. The CRF Gene Therapy Consortium holds the first real promise that a cure for cystinosis is a possibility.

The Third CRF International Cystinosis Research Symposium is scheduled for 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 is expected to be attended by more than 60 researchers and scientists representing eight countries who have been working to achieve better treatments and a cure for cystinosis.  

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