First Gene Therapy Clinical Trial for Cystinosis Enrolling Soon


Cystinosis is a rare disease which is caused by a buildup of cystine in the body’s cells. This buildup impacts various organs including the brain, eyes, liver, kidneys, and muscles. There is currently no cure for the condition, which affects around 2,000 people around the world.

But, thanks to contributions from the Cystinosis Research Foundation, a new clinical trial investigating gene therapy as a treatment for this condition is in the works.

The Cystinosis Research Foundation

The Cystinosis Research Foundation (CRF) is an organization dedicated to accelerating research for Cystinois. They provide more research grants for cystinosis than any other private organization in the world. These grants have equated to over 30 million dollars since the organization was founded in 2003. The funds have been distributed across 12 different countries. So far, CRF has contributed to 181 different grants. Their goal is to ultimately help find a cure for the condition, however they also understand the importance of, and advocate for, ways to improve patient’s quality of life until a cure is found. You can read more about the foundation and their work here.

The Approval

The upcoming clinical trial for cystinosis, just recently approved by the FDA, will the be the very first human trial investigating gene therapy and stem cell therapy as a potential treatment for the condition.

The research which led to this trial was completed by Stéphanie Cherqui, who is a professor at the University of California San Diego. The CRF has donated over 4.3 million dollars toward her research, without which it would not have been possible. This research has been ongoing for the last 12 years.

Dr. Cherqui’s work has also received financial support from the California Institute for Regenerative Medicine as well as the NIH. She investigated the therapy in mice, and found that it was effective in protecting the thyroid, eyes, and kidneys from the detrimental effects of cystine build up, preserving the organs. The symptoms of cystinosis in these mice was therefore prevented.

“This approval from the FDA brings us one step closer to what we believe will be a cure for cystinosis.”

The Upcoming Trial

This trial should begin recruitment soon! It is a Phase I/II trial, and recruitment will occur worldwide. That said, priority will be given to patients in the United States. This first phase will only include patients who are 18 or older, however, CRF is hopeful that future iterations of the trial will also include children.

The trial will be led by Stéphanie Cherqui at the University of California San Diego Health.

Looking Forward

In addition to this therapy’s potential for the treatment of cystinosis, Cherqui’s findings have also shed light into the investigation of other genetic disorders. Researchers believe this new perspective of regenerative medicine may lead to new treatment options for kidney disease, Friedreich’s Ataxia, Danon Disease, and other systemic and genetic conditions. All of these conditions have an unmet need, with no or limited treatment options. But hopefully, through this research we will see real patents living with these debilitating conditions receive access to effective therapeutic treatments soon.

You can read more about this research, the Cystinosis Research Foundation, and the upcoming gene therapy trial for cystinosis here.

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