SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

May 26, 2011 16:46 ET

Cystinosis Fundraiser Nets $1.6 Million; Research Edges Closer to New Treatment, Cure for Fatal Disease

IRVINE, CA--(Marketwire - May 26, 2011) - The Cystinosis Research Foundation raised $1.6 million at its annual Natalie's Wish event in Newport Beach, Calif., as scientists are closing in on a gene and stem-cell therapy-based cure for the rare, metabolic and fatal disease that afflicts about 2,000 persons, mostly children, worldwide.

"The advancements made by the Cystinosis Research Foundation are astonishing," said Nancy Stack, CRF chairwoman. "New treatment discoveries made by CRF-funded researchers are the closest thing we have to a cure. They're being tested in trials for Huntington's disease, Parkinson's disease and NASH, a progressive liver disease."

"CRF-funded research at The Scripps Research Institute has resulted in amazing progress moving us closer to a cure. Using cystinosis mouse models, researchers have been able to reverse cystinosis in mice using bone marrow stem-cell transplantation. After mice were transplanted, every single organ in the cystinosis mouse saw a reversal of cystinosis," she said.

Honored at the event were three leading cystinosis researchers as well as the top executive of a pharmaceutical company that is spearheading efforts to win 2012 government approval for the first new cystinosis medication in 35 years. The medication was developed by CRF-funded researchers.

There were 335 people who attended the annual CRF fundraiser named for Natalie Stack, 20, 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 has awarded $11.8 million in research grants in eight countries and has funded 78 multi-year studies worldwide and 13 research fellows. 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.

The event at the Balboa Bay Club raised $835,015 through direct donations, $647,150 from six related cystinosis groups and $110,000 at the live auction. The total exceeds the $1.3 million donated at last year's fundraiser.

Cystinosis afflicts about 500 children and young adults in the United States and 2,000 worldwide. Cystinosis is an abnormal accumulation of the amino acid cystine that slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. Most cystinosis sufferers succumb to the disease or its complications by age 40.

The three researchers receiving special recognition at the CRF event were:

Corinne Antignac, M.D., of Necker Children's Hospital in Paris, who first identified the cystinosis CTNS gene.

Rajan Dohil, M.D., Professor of Pediatrics at the University of California, San Diego, who with Dr. Jerry Schneider, Dean for Academic Affairs Emeritus at UCSD's School of Medicine, developed a delayed-release form of cysteamine, the only cystinosis medication used to treat the disease.

Stephanie Cherqui, Ph.D., Assistant Professor at The Scripps Research Institute in San Diego, Calif., who established proof of concept for bone marrow stem-cell transplantation in the mouse model for cystinosis.

Raptor Pharmaceuticals Corp. of Novato, Calif., and Ted Daley, the company's president, were recognized for acquiring the license to reformulate the delayed-release drug, developed by Drs. Dohil and Schneider, and guiding it through the clinical trial regimen to gain approval from the United States Food and Drug Administration.

The drug, called DR Cysteamine, is expected to complete its Phase 4 trial this year and win approval for use next year.

The six family foundations that donated funds to the CRF are: Jenna & Patrick's Foundation of Hope; Hope for Holt; 24 Hours for Hank; Cystinosis Awareness & Research Effort; Joshua's Journey of Hope and Addison's Angels.

Master of ceremonies for the event was Tim Kashani, who co-produced "Memphis The Musical" the winner of the 2010 Tony Award for Best Musical. Entertainment was provided by Overtone, an a cappella group from South Africa whose music was used by Oscar winner Clint Eastwood in his powerful 2009 film "Invictus."

The event followed a three-day cystinosis family conference where participants were able to meet and share their stories of coping with cystinosis, drawing inspiration from each other and hope from leading researchers for a healthier future.

The conference, sponsored by Raptor Pharmaceuticals and Sigma-Tau Pharmaceuticals Inc., featured top cystinosis researchers from around the world who detailed their progress on gene and stem cell therapies, novel eye research and neurological issues related to cystinosis.

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