Cystinosis Research Foundation Announces Federal Drug Administration Approval for First Human Clinical Trials

IRVINE, Calif.--(BUSINESS WIRE)-- The Cystinosis Research Foundation (CRF), the largest provider of grants for cystinosis research in the world, today announced that the Federal Drug Administration (FDA) granted approval for the first human clinical trial for stem cell and gene therapy treatment for cystinosis. Previous studies with mice found that the treatment rescued the kidneys, eyes and thyroid from the effects of cystine, effectively preventing the symptoms of cystinosis.

Cystinosis is a rare, incurable metabolic disorder that afflicts 500 children and young adults in the United States and 2,000 people worldwide. It slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and brain due to a buildup of the amino acid cystine that crystallizes and kills the cells. Since 2003, the Cystinosis Research Foundation has funded 181 grants in 12 countries that are focused on novel treatments and the cure for cystinosis.

Over the last 12 years, CRF has provided more than $4.3 million in research funding to Stéphanie Cherqui, PhD, associate professor of pediatrics at University of California San Diego School of Medicine. Dr. Cherqui is the researcher whose pioneering work led to the new therapy and she will be leading the trial at UC San Diego Health in San Diego, California. The foundation’s continuous commitment enabled Dr. Cherqui to continue attracting additional funding from the National Institute of Health (NIH) and California Institute for Regenerative Medicine (CIRM). Support from CIRM and the NIH accelerated Dr. Cherqui’s research which has resulted in this extraordinary achievement.

“We are thrilled that CRF’s dedication to funding Dr. Stéphanie Cherqui’s work has resulted in FDA approval for the first-ever stem cell and gene therapy treatment for individuals living with cystinosis,” said CRF Founder and President, Nancy Stack. “This approval from the FDA brings us one step closer to what we believe will be a cure for cystinosis and will be the answer to my daughter Natalie’s wish made fifteen years ago, ‘to have my disease go away forever.’ We are so thankful to our donors and our cystinosis families who had faith and believed this day would come.”

The upcoming phase I/II human clinical trial is anticipated to begin the recruitment period this winter. Individuals must be 18 years or older and meet specific eligibility requirements to participate. The subsequent phases of the clinical trials may include children, however timing and approvals of this have yet to be determined. The trials are available to individuals worldwide, though priority will be given to U.S. patients.

“We were excited that the hematopoietic stem cells and gene therapy worked so well to prevent tissue degeneration in the mouse model of cystinosis,” said Stéphanie Cherqui, Ph.D., UC San Diego and lead researcher for cystinosis.

“This discovery opened new perspectives in regenerative medicine and in the application to other genetic disorders. Our findings may deliver a completely new paradigm for the treatment of a wide assortment of diseases including kidney and other genetic disorders. If so, CRF, through their years of support will have helped an untold number of patients with untreatable, debilitating diseases.”

In addition to gaining momentum for cystinosis, the trials could lead to advancements in other multi-organ degenerative disorders such as Friedreich’s Ataxia and Danon disease as well as the treatment of other more prevalent disorders and diseases including other kidney, genetic and systemic diseases similar to cystinosis.

Those with questions on the trials can call toll free: 844-317-7836 (STEM) and/or visit www.cystinosisresarch.org

About the Cystinosis Research Foundation

The Cystinosis Research Foundation 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. Since 2003, CRF has committed more than $30 million to support bench, clinical and translational research to find better treatments and a cure for cystinosis making it the largest private fund provider in the world. The foundation is dedicated to educating the public and medical community about cystinosis to ensure early diagnosis and proper treatment. Visit us on Facebook or www.cystinosisresearch.org.

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