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CRF Raises $2.2 Million to Cure Cystinosis; Researchers Gain In Developing New Treatments For Rare Disease

NEWPORT BEACH, CA -- (Marketwired) -- 04/29/13 -- The Cystinosis Research Foundation raised $2.2 million at its 11th anniversary celebration of Natalie's Wish, where it was announced that researchers believe a promising new treatment to save the eyesight of cystinosis patients may be ready for clinical trials next year. Cystinosis is a rare metabolic disease that causes early cell death in vital organs and afflicts about 2,000 people, mostly children, worldwide.

"If this treatment works, it would be revolutionary and would change the course of corneal cystinosis," Nancy Stack, CRF co-founder and trustee, told 450 supporters of the cystinosis community at the CRF's annual fundraiser. Stack's remarks were in praise of Dr. Jennifer Simpson, who discovered the potential novel eye treatment.

A two-day conference, which culminated with a fundraising dinner featuring Taylor Hicks, an American Idol winner and current Las Vegas headliner, and the All-American Boys Chorus, was organized for cystinosis families and CRF-funded researchers. CRF also announced that a dramatically improved cysteamine medication is days away from receiving final approval from the Food and Drug Administration.

Funds raised at the dinner totaled $2.2 million with cystinosis families contributing $564,000 through their foundations and various fundraising events throughout the country. During the evening, $205,000 was raised at a live auction, which included fine wine, deluxe dinners, a tour of NASA in Houston, trips to Napa Valley and Las Vegas and private suites for concerts by Andrea Bocelli and the Rolling Stones. One hundred percent of all donations are directed to research.

In patients with cystinosis the amino acid cystine abnormally accumulates in the cells due to a defective cystine transporter. Over time, cystine destroys all organs in the body including the kidneys, muscles, eyes and central nervous system. Other complications include muscle wasting and difficulty swallowing.

The event is named for Natalie Stack, the 22-year-old daughter of Geoffrey and Nancy Stack. As a child, Natalie wrote a birthday wish asking her parents "to have my disease go away forever." The Stacks formed the CRF in 2003 and with help from hundreds of cystinosis families and friends have raised more than $22 million for research. The CRF has funded 103 studies at leading institutions in 11 countries.

Stem cell and gene therapy research projects led by Dr. Stephanie Cherqui, an assistant professor at the University of California, San Diego, have been made possible by grants from CRF, which has supported her work since 2006. Currently there is a pilot research study underway at the Ronald Reagan UCLA Medical Center in Los Angeles to determine if blood stem cell transplants, with bone marrow from matched related donors, are an effective treatment that will slow down or prevent the progression of cystinosis.

Today, the reach of the Cystinosis Research Foundation extends far beyond the cystinosis community. CRF-funded research has helped advance potential treatments for more prevalent and well-known disorders and diseases such as Huntington's disease, Parkinson's disease and NASH, a progressive liver disease that affects millions of people. There is great potential that CRF adult stem cell research will help other corneal diseases and genetic diseases with systemic defects similar to cystinosis.

Stack explained that cystinosis causes a painful build-up of cystine crystals in the eyes and on the cornea. "Natalie describes the feeling as equivalent to having an eyelash or sand in her eye. We are fortunate because there is an eye-drop treatment but it requires that eye drops be taken every waking hour. As you can imagine, compliance is low. I know in Natalie's case, it is a miracle if she gets five to seven doses each day."

Led by Dr. Simpson, a clinical professor of ophthalmology, the new treatment is being developed at the Gavin Herbert Eye Institute at the University of California, Irvine. It involves a type of lens that is loaded with medication and is placed in the eye where the medication slowly releases. The research team includes Dr. Ghanashyam Acharya at Baylor College of Medicine, who developed the lens. CRF funded the research that lead to the development of the potential treatment.

Stack also said that final FDA approval is "expected within days" for the delayed-release medication that will increase compliance and reduce the drug side effects dramatically improving the quality of life for all cystinosis patients. CRF funded every bench and clinical research study that led to the discovery of delayed-release cysteamine which was then reformulated by Raptor Pharmaceuticals. The new formulation will cut the medication's dosing frequency in half, to every 12 hours verses the current six-hour dosing schedule.

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