Cystinosis Research Foundation

CRF’s mission is to support bench, clinical, and translational cystinosis research to find better treatments and a cure for cystinosis. CRF is dedicated to finding better treatments to improve the quality of life for those with cystinosis and to ultimately find a cure for this devastating disease.

The Story of Natalie's Wish: On the eve of her 12th birthday, Natalie made a birthday wish that no child should ever have to make. Her wish, "to have my disease go away forever" was the catalyst for the formation of the Cystinosis Research Foundation. Her parents knew at that moment they needed to make every effort to make Natalie’s wish – and the wish of others with cystinosis – become a reality. Since that time, our extraordinary community of friends and family has helped make Natalie’s wish move closer to reality by raising $70 million for cystinosis research. The CRF is committed to finding better treatments for cystinosis and finding a cure for this devastating disease. 

The Cystinosis Research Foundation is playing an instrumental and leading role in the field of cystinosis research by awarding multi-year bench, clinical and translational research grants to doctors and scientists around the world. Since 2003, we have funded 245 multi-year research studies at world-renowned institutions in 13 countries around the globe. CRF has strategically focused funding research on the kidneys, eyes, muscles and bones, brain, and thyroid which are the areas most severely affected by cystinosis.
We began funding Stephanie Cherqui, PhD, at the University of California, San Diego in 2007, and have issued grants totaling $5.78 million for her pioneering work on stem cell and gene therapy. The Phase I and II clinical trial of the genetically modified autologous stem cell transplant was approved by the FDA in 2018 for six adult patients. The first stem cell transplant officially occurred on October 7, 2019, when Jordan Janz, the first patient to volunteer for the clinical trial, was transplanted with his genetically modified cells. The second patient was transplanted with the experimental stem cell and gene therapy treatment on June 29, 2020, and the third was transplanted on November 16, 2020. On November 15, 2021, the fourth transplant occurred. In March of 2022, the fifth patient was transplanted and the sixth and final patient in the clinical trial was transplanted in October 2022. Today all six patients are doing well. The stem cell trial holds the promise of a cure for cystinosis. Because of CRF-funded research, the quality of life for cystinosis adults, our children, and their families have been greatly enhanced. Your support has made this possible – you have funded all of the research that has led to these revolutionary advancements in treatments.

It was only 20 years ago that the Cystinosis Research Foundation (CRF) was formed with the sole purpose of finding better treatments and a cure for cystinosis. We have aggressively pursued cutting-edge research by funding the best and the brightest scientists. CRF is funding research for a potential new treatment for corneal cystinosis using nanotechnology and anticipates a clinical trial soon. CRF-funded research discoveries are being applied to other diseases and disorders including Alzheimer's, Friedreich's Ataxia, Danon disease, eye diseases, and genetic diseases similar to cystinosis. We have experienced tremendous growth as others join our efforts to find a cure for this devastating disease, but there is still much to be done. All of the operational costs of the CRF are underwritten so that 100% of your donations go directly to fund cystinosis research.

CRF is the largest fund provider of grants for cystinosis research in the world, issuing 245 grants in 13 countries. CRF's commitment to research has given hope and promise to the global community of cystinosis patients and their families.

While there are only a small number of patients who suffer from any given “orphan” disease, knowledge discovered by studying one rare disease often leads to advancements in other rare diseases. In fact, today CRF-funded research is helping millions of other people around the world with more prevalent and well-known disorders and diseases such as lysosomal storage diseases, kidney diseases, and corneal eye diseases. 

The research we have funded has improved the quality of life for people with cystinosis and more importantly, has allowed those with cystinosis to dream of a life free of this disease. We have accomplished all of this because you have partnered with us to fund research to find a cure.