SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

May 01, 2012 15:44 ET

Cystinosis Research Foundation Raises $1.75 Million; Milestones Announced

IRVINE, CA--(Marketwire - May 1, 2012) - The Cystinosis Research Foundation raised $1.75 million at its tenth anniversary celebration of Natalie's Wish and announced reaching two milestones in its search for better treatments and a cure for the rare metabolic disease that afflicts about 2,000 people, mostly children, worldwide.

"We received word that the UCLA Institutional Review Board just approved the first allogeneic stem cell treatment protocol for cystinosis, clearing the way for the first clinical test of this potential cure. Additionally, research that we're funding at the University of California, Irvine, has raised hopes of reversing corneal cystinosis, a painful eye condition associated with cystinosis," said Nancy Stack, CRF co-founder and trustee.

Stack announced what she called the "extraordinary developments" at the CRF's major annual fundraiser in Newport Beach, Calif., that was attended by 400 supporters of the cystinosis community.

The event capped a two-day conference for cystinosis patients and their families who received comprehensive updates on the latest in scientific advancements toward improved treatments and a cure for the metabolic disease that causes an abnormal accumulation of the amino acid cystine in the body. Cystinosis slowly destroys all of the organs, including the liver, kidneys, eyes, muscles, thyroid and brain.

The event's theme was "Wishes, Heroes and Miracles" and it highlighted the CRF's first 10 years that "have brought us to the threshold of a cure and the first improved treatment in 35 years," Stack said.

Since 2003, the CRF has funded more than $15 million in cystinosis research, which currently is under way at leading institutions in nine countries.

John Hagestad, a CRF director, said $650,000 was raised prior to the fundraiser from individual donors. In addition, cystinosis families from around the world contributed $584,000 from their fundraising efforts. Cash donations at the event along with proceeds from auction items, which included concert tickets, wine, dinners and trips to New York City, San Francisco, Palm Springs, Calif., Colorado and Montana, totaled more than $516,000.

The central focus of cystinosis research follows a CRF-funded stem cell therapy breakthrough by Dr. Stephanie Cherqui, who reversed the disease in laboratory mice at The Scripps Research Institute in La Jolla, Calif. Her findings are now being advanced by a team of leading clinicians and researchers at UCLA, where the first stem cell treatment will take place.

Additionally, CRF-funded research by Dr. Jennifer Simpson at UCI has been able to "significantly improve corneal cystinosis in mice. Dr. Simpson is studying a novel type of drug delivery system. She is using stem cells as a potential curative treatment," Stack said.

The research by Drs. Cherqui and Simpson also has garnered more than $3.4 million in grants from the National Institutes of Health in the last 18 months, Stack said.

Previous CRF-funded research has produced a delayed-release form of the existing medication, cysteamine, significantly reduces the patients' requirement to take the drug every six hours. Raptor Pharmaceuticals Inc. is seeking to win full FDA approval this year for the improved drug, RP103, a drug that can be taken every 12 hours, Stack said.

"Advancements made by CRF-funded research also are being applied in clinical trials for Huntington's disease, Parkinson's disease and NASH, a progressive liver disease. CRF funded research goes beyond the cystinosis community," Stack said.

The annual CRF fundraiser is named for Natalie Stack, 21, who was diagnosed with cystinosis as an infant. She is a daughter of Geoffrey and Nancy Stack. The Stacks established the CRF in 2003. The CRF is the leading funding source for bench and clinical investigations for cystinosis. Because the foundation's administrative costs are privately underwritten, all donated funds are dedicated to research.

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  • Zoe Solsby
    (949) 223-7610