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.NATALIE'S WISHNatalie's 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 Natalie's 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 us 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 $67 million and has become the leading provider of funds for cystinosis research throughout the world. CRF has strategically and aggressively invested millions of dollars into cystinosis research 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.We are pleased to announce that during the 12-month period ending June 30, 2023, CRF awarded 7 new grants totaling $1,280,550 for cystinosis research. The new grants bring us that much closer to better treatments and a cure.CRF awards grants to the best and brightest researchers in the world. To date, CRF has awarded 228 studies at leading research institutions in 12 countries. CRF-funded researchers have published 107 articles in prestigious, top-rated journals. Those articles, available to everyone in the world, have contributed to the understanding of the pathogenesis and treatment of cystinosis.RESEARCH PROGRESSFrom the start of the foundation, we have understood that funding basic and bench research was important to understanding 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, ProcysbiO 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 CRF's 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 to fund 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.CYSTINOSIS RESEARCH HELPS OTHERSMany of the discoveries made by CRF researchers are currently being applied to other more prevalent and well-known disorders and diseases including other corneal diseases, kidney diseases and genetic and systemic diseases similar to cystinosis. Support for cystinosis research has reached far beyond the cystinosis community. A cure for cystinosis will help find cures for other diseases potentially helping millions of people.CRF FAMILIES AND PARTNERSThe Cystinosis Research Foundation has witnessed tremendous growth over the years as cystinosis families have joined our fundraising efforts. People from all over the world have embraced the cystinosis cause and have enthusiastically raised funds to support cystinosis research through CRF. 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 2023, 62 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 updates 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 REGISTRYThe Cystinosis Research Foundation is excited to announce that a new, updated registry, the Cure Cystinosis International Registry (CCIR) was launched in April 2021. Today, more than 156 cystinosis families have registered with CCIR. The new registry will track patients' natural history data, collect data about current treatments, identify known and unknown medical complications and collect information about quality-of-life issues. The CCIR will be 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.CRF INTERNATIONAL RESEARCH SYMPOSIUMCRF's 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 in an effort to accelerate the research process. The symposium has created a synergistic research community working in partnership with CRF.