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 $74 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, leading role in cystinosis research by awarding multi-year bench, clinical, and translational research grants to doctors and scientists worldwide. Since 2003, we have funded 255 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.
Since 2007, the Cystinosis Research Foundation has proudly supported and funded the groundbreaking work of Dr. Stéphanie Cherqui, at UC San Diego, whose vision, brilliance, and steadfast commitment have laid the scientific foundation for the stem cell and gene therapy trial now underway. Because of Dr. Cherqui, the extraordinary courage of the five adult participants in the first clinical trial, and the relentless support of our generous donors, our wish for a cure is no longer just a dream but a possibility finally within our reach.

In the summer of 2025, Novartis (who acquired the cystinosis stem cell program in May 2023) announced the opening of the next phase of the cystinosis trial for pediatric participants aged 2-5 years. The clinical trial will assess the safety, tolerability, and efficacy of the stem cell treatment. CRF is thrilled to report that the first patient was accepted into the trial just before her sixth birthday and was transplanted in mid-May of 2026. It is with pride that we emphasize that this phase of the trial was approved based on positive data from phase 1/2 of the clinical trial led by Dr. Stéphanie Cherqui. Diego.
Since Novartis’ acquisition of the cystinosis program, CRF has worked with Novartis to ensure the voices of our community were heard. We have fiercely advocated on behalf of the community every step of the way. We have reported what it is like to live with cystinosis, including the daily burden of disease and the current quality of life. We were able to advise Novartis on the clinical trial design and, most importantly, we emphasized how critical it is that they move quickly to guarantee this treatment is approved for all those with cystinosis. Today, we are closer than ever to realizing a cure.

It was only 23 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-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 100% of your donations go directly to fund cystinosis research.

CRF is the largest private funder of grants for cystinosis research worldwide, issuing 255 grants across 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.