Research Overview

The Cystinosis Research Foundation’s mission is to support bench, clinical and translational cystinosis research to find better treatments and a cure for cystinosis. Funding quality cystinosis research studies remains a priority and is an ongoing process. The CRF announces global calls for research proposals bi-annually in the spring and fall of each year. After review and recommendations 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 over $70 million to cystinosis research and has awarded 238 research studies and fellowships in 13 countries. CRF-funded researchers have published 109 articles in prestigious, top-rated journals. Those articles, available to everyone in the world, have added to the understanding of the pathogenesis of cystinosis.  

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 advance their research efforts.

We have reached important CRF milestones in research developments and significant advancements in the treatment of cystinosis.

Stem Cell Gene Therapy

CRF began funding Dr. Stéphanie Cherqui at UC San Diego in 2007. We believed that the stem cell and gene therapy work that she was researching and focused on could be the cure for cystinosis. To date, CRF has issued over $6.1 million in grants for Dr. Cherqui’s work. Since that time, the seed money CRF provided has been leveraged by other funding agencies including CIRM (California Institute of Regenerative Medicine) and the NIH (National Institutes of Health). Although it was not an easy road to FDA approval, Dr. Cherqui remained committed to her work and in 2018, the FDA approved a clinical trial to test the stem cell treatment in six adult patients with cystinosis.

Phase I/II trial of the genetically-modified autologous stem cell transplant involves taking hematopoietic stem cells from the patient and genetically modifying them with a lentivirus vector to insert a correct copy of the cystinosis gene. These stem cells (without cystinosis) are then transplanted back into the patient. 

In October 2019, the first patient was transplanted, and in June and November 2020, the second and third patients received the treatment. On November 15, 2021, the fourth patient was successfully transplanted and on March 29, 2022, the fifth patient received the treatment. The sixth and final patient of the Phase I/II trial received the stem cell and gene therapy treatment on Monday, October 24, 2022. We are pleased to report that all six patients are doing well.

 We are optimistic that this treatment will stop the progression of cystinosis or be the cure for cystinosis.  We are thankful to Dr. Cherqui who has dedicated her career to finding a cure for cystinosis. The next phase of the clinical trial will be conducted by Novartis. We look forward to learning more about their plans soon.

Corneal Cystinosis

CRF is dedicated to finding better treatments for corneal cystinosis.  Corneal cystinosis is the build-up of cystine crystals in the eyes that causes photophobia (extreme sensitivity to light) severe eye pain, and sometimes, blindness.  There is an existing treatment but it is rigorous, painful and requires hourly dosing of medicated eye drops.

CRF has been funding Morgan DiLeo, PhD, (formerly Fedorchak) at the University of Pittsburgh since 2016. Her aim is to develop an eye drop with a controlled-release formulation that provides a full day of cysteamine therapy in a single drop. Dr. Fedorchak and her team have developed a thermoresponsive hydrogel that contains spray-dried, cysteamine-loaded microspheres. Her progress has been remarkable, already moving toward preclinical safety and efficacy studies. We are pleased to report that CRF has entered into an Option Agreement with the University of Pittsburgh to potentially acquire an exclusive license to the technology for use in developing a new FDA-approved treatment for corneal cystinosis.

New Treatments

One of our earliest research milestones, and one we are most proud of, is the FDA approval of Procysbi®, a delayed-release form of the life-saving drug our children and adults with cystinosis must take. Our first objective as a foundation was to find an improved form of cysteamine, the life-saving daily treatment our patients must take.  For decades, Cystagon was the only treatment for cystinosis until CRF funded a team of researchers at UC San Diego who discovered a way to slowly release the medication.  CRF funded every bench and early clinical trial that led to the discovery of a delayed-release form of the life-saving medication. The delayed-release medication, approved by the FDA in 2013, is considered the most significant advancement in the treatment of cystinosis in 30 years.

CRF Funds a Broad Spectrum of Research

Cystinosis affects every tissue and organ in the body.  CRF, therefore, funds a broad portfolio of research in areas that are affected by cystinosis.  CRF has active grants in research areas focused on myopathy, muscle wasting, neurological issues, corneal cystinosis, stem cell and gene therapy, novel drug treatments, iPS research, kidney research, genetics, and cellular and molecular studies.  All of the research CRF funds will add to the breadth and knowledge about cystinosis.  Every discovery, big or small, helps the global cystinosis research community. 

The most remarkable result of CRF-funded research is its impact on other diseases and disorders. CRF discoveries are being applied to other more prevalent diseases and disorders.  Discoveries made by our researchers have the potential to help millions of others with diseases and disorders similar to cystinosis. In fact, discoveries from our research teams are being applied to Friedreich’s Ataxia, Danon disease, corneal diseases, kidney diseases, and genetic and systemic diseases similar to cystinosis.  

CRF announces the call for research applications bi-annually, in the spring and fall of each year.  If you are a researcher and wish to apply for a research grant click here for more information or email Nancy Stack.