CYSTINOSIS RESEARCH FOUNDATION

EDUCATIONThe Cystinosis Research Foundation is dedicated to educating the cystinosis community, the public and the medical community about cystinosis to ensure early diagnosis and immediate and proper treatment.NATALIES WISHNatalies wish, To have my disease go away forever, was the driving force and inspiration that led to the establishment of the Cystinosis Research Foundation (CRF) in 2003. We knew at that moment that we needed to make every effort to make Natalies wish and the wish of others with cystinosis a reality.HISTORY AND RESEARCHCystinosis is a rare, metabolic, genetic disease that afflicts approximately 2,500 children and adults worldwide. CRF is increasingly focused on funding clinical and translational research which is crucial to finding new treatments and a cure for cystinosis. CRF is committed to prioritizing and aggressively supporting research that has the potential to significantly improve the quality of life for children and adults with cystinosis. RESEARCH GIVES US HOPEWe firmly believe that funding and supporting research gives our community hope for a brighter future for those living with cystinosis. Hope allows us to live with cystinosis until the day a cure is found. Since 2003, the Cystinosis Research Foundation (CRF) has raised over $73 million and has become the worlds leading fund provider of cystinosis research. CRF has strategically and aggressively invested millions of dollars into the CRF research program creating a thriving and collaborative global research community that has changed the course of cystinosis. From the beginning, all CRF operating costs have been privately underwritten, so 100 percent of all donations received by CRF go to support cystinosis research. CRF HAS CREATED A CONTINUOUS CYCLE OF RESEARCH STUDIES BY SEEKING NEW RESEARCH APPLICATIONS TWICE A YEAR. We are pleased to announce that during the 12-month period ending June 30, 2025, CRF announced seven new grantS, AND GRANT PAYMENTS totaling $2,326,589,TO bring us that much closer to better treatments and a cure. RESEARCH PROGRESSFROM THE START OF THE FOUNDATION, WE HAVE UNDERSTOOD THAT FUNDING BASIC AND BENCH RESEARCH WAS important to understanding the cystinosis. Over the years, as discoveries were made in the lab, CRF began funding clinical research, and now we are translating the DATA FROM the clinical studies To the patients. Our strategy of providing seed money to talented researchers has been successful. Our first project involved funding researchers who were focused on a new treatment. CRF provided grants that funded every bench and clinical trial that led to the discovery of a delayed-release form of the life-saving medication for cystinosis. That medication, Procysbi was approved by the FDA on April 30, 2013, and is considered the most significant advancement in the treatment of cystinosis in 30 years. In 2007, CRF began funding Dr. Stphanie Cherqui, at UC San Diego who was focused on stem cell and gene therapy research. As a direct result of CRFs early and continuous funding, in December 2018, the FDA approved a clinical trial to assess the efficacy and safety of a stem cell and gene therapy treatment for cystinosis patients. In October 2019, the first cystinosis patient received the stem cell gene therapy treatment. In 2020, two patients received the therapy. In November 2021, the fourth patient received the treatment and in March 2022, the fifth patient received the treatment. The sixth and final patient in Phase I/II of the clinical trial was treated in October 2022. THE GRANTS AWARDED TO DR. CHERQUI FOR HER STEM CELL WORK HAVE BEEN LEVERAGED BY MULTI-MILLION-DOLLAR GRANTS FROM OTHER FUNDING AGENCIES. IF THIS TREATMENT WORKS, IT COULD STOP THE PROGRESSION OF CYSTINOSIS OR BE THE CURE FOR CYSTINOSIS.Since cystinosis is a systemic disease and affects every cell, CRF has targeted multiple areas of research including kidney disease, muscle wasting, neurological issues, corneal cystinosis, and stem cell and gene therapy, all with the goal of finding better treatments and a cure for cystinosis. CRF RESEARCH LEADS TO NEW DISCOVERIES IN OTHER MORE PREVALENT DISEASESAlthough CRF is focused on cystinosis research, discoveries made by CRF-funded researchers are being applied to other diseases including Friedreichs ataxia, Danon disease, Alzheimers disease, and other genetic and systemic diseases like cystinosis. As a result, breakthroughs initially aimed at helping the cystinosis community are now offering potential benefits to patients affected by other debilitating diseases. By advancing understanding of the underlying mechanisms of cystinosis, we have identified potential treatments that are relevant to other disease communities, creating pathways to cures for their communities. We are changing lives and giving hope to people far beyond the cystinosis community.CRF FAMILIES AND PARTNERSThe Cystinosis Research Foundation has witnessed tremendous growth over the years as cystinosis families have joined our fundraising efforts. Cystinosis families from all over the world have embraced the cystinosis cause and have enthusiastically raised funds to support cystinosis research through CRF. Their commitment to research has not only raised significant funds for research, but also created a strong and united global community of action. We have found strength in numbers and our joint effort gives us a renewed sense of community and purpose.DAY OF HOPE CONFERENCEEach year the Cystinosis Research Foundation hosts the Day of Hope Family Conference. In 2025, 59 families from around the world gathered to share their stories, hopes, and dreams and to build life-long friendships. Leading CRF-funded researchers attended the conference and updated the cystinosis community on their research progress including progress on gene and stem cell therapies, novel eye research, and neurological research. The conference educates cystinosis families about current and ongoing research and offers them hope that brighter days are ahead for cystinosis patients. CURE CYSTINOSIS INTERNATIONAL REGISTRYLaunched in April 2012, the Cure Cystinosis International Registry (CCIR) is an important program in the cystinosis community. The registry tracks patients natural history data, collects data about current treatments, identifies known and unknown medical complications, and collects information about quality-of-life issues. The CCIR is a central hub of information for the global community. The deidentified patient data from the registry can be shared with cystinosis clinicians, researchers, and scientists who are pursuing research focused on better treatments and a cure for cystinosis. Today, more than 171 cystinosis patients have registered with CCIR. CRF INTERNATIONAL RESEARCH SYMPOSIUMCRFs International Research Symposium is held every two years and is a highlight for cystinosis researchers. Attendees are CRF-funded researchers and scientists from around the world. Approximately 60 cystinosis experts from leading international universities and research institutions are invited to give presentations about their work. Attendees share their research progress and are encouraged to form collaborations to accelerate the research process. The symposium has solidified the global research community and created a synergistic research community working in partnership with CRF.