SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

May 06, 2010 13:52 ET

Cystinosis Research Foundation Raises $1.3 Million; Scientists Are on the 'Threshold' of Cure for Rare, Fatal Disease

IRVINE, CA--(Marketwire - May 6, 2010) -  The Cystinosis Research Foundation raised $1.3 million at its ninth annual Natalie's Wish event at which officials of the foundation for the rare, metabolic and fatal disease said scientists are on their way to testing for a cure in three or four years through gene and stem-cell therapy.

"We are on the threshold of great possibilities," said CRF Trustee and co-founder Nancy Stack to 300 guests at the Balboa Bay Club in Newport Beach, Calif. Already, advancements in cystinosis treatments are being clinically tested against other diseases including Huntington's, Parkinson's and NASH, a progressive liver disorder.

She introduced several prominent research doctors whose work has been funded by the CRF. One researcher, Dr. Stephanie Cherqui at the The Scripps Research Institute in San Diego, Calif., Stack said, has reversed the disease in mice, a discovery she called "astonishing." 

There are about 2,000 cystinosis sufferers, mostly children, worldwide. In patients with cystinosis the amino acid cystine accumulates in the tissue due to the inability of the body to transport cystine out of the cell. Over time, cystine destroys various organs including the kidneys, liver, muscles, white blood cells, eyes and central nervous system. Other complications include muscle wasting and difficulty swallowing. Most cystinosis sufferers succumb by age 40.

"Using the mouse model of cystinosis, Dr. Cherqui was able to successfully reverse cystinosis in the mice using bone-marrow, stem-cell transplantation," Stack said.

Dr. Cherqui's discovery and featured research on the cover of a recent issue of "Blood" journal, "was an enormous advancement" for cystinosis, Stack said. The findings have "far-reaching implications for applications for other diseases with systemic defects similar to cystinosis," she said.

In a separate development, upcoming clinical trials by Raptor Pharmaceutical are expected to lead to Food and Drug Administration approval next year of DR Cysteamine, an improved form of the existing medication and the first advancement in nearly 30 years.

Cysteamine is only drug available for treatment of cystinosis but must be taken every six hours to be effective. The new form of the drug cuts the dosing schedule in half. It was developed with CRF-funded grants by Drs. Ranjan Dohil and Jerry Schneider of the University of California, San Diego.

Seventeen families with one or more cystinosis sufferers were among the dinner guests. Five family foundations raised and donated $445,000. Natalie's Wish is named for Natalie Stack, a 19-year-old college freshman. The daughter of Nancy and Jeff Stack was diagnosed with cystinosis as an infant.

Platinum singer and songwriter John Ondrasik of Five for Fighting performed several of his popular songs on guitar and piano, including Grammy nominated "100 Years." Ondrasik, a philanthropist and longtime supporter of U.S. troops and who has performed on USO/Armed Forces tours, writes deeply emotional music with social messages, invoking the human spirit. Two of his five albums were certified platinum.

"The CRF is doing amazing work towards a cure for cystinosis. Natalie and her family continue to lead the way with inspiring and determined work attacking this orphan disease. I'm proud to have been a small part in this event," Ondrasik said.

The auction raised $89,200; the remaining more than $1.2 million came in direct donations. Families contributed independently and through foundations. The foundation for Jenna and Patrick Partington in Sacramento, Calif., donated $200,000; the Hope for Holt foundation in, Huntersville, N.C., donated $125,000; 24 Hours for Hank, Sandpoint, Idaho, donated $75,000 and Joshua's Journey of Hope, Meniffe, Calif., donated $25,000. The Cystinosis Foundation and its New Jersey Chapter, donated $20,000.

All of the CRF's expenses are privately underwritten and since its formation in 2003, the CRF has funded more than $10.8 million to sponsor 71 cystinosis research projects. Twice a year the CRF puts out worldwide calls to the scientific community for research proposals. Currently, the CRF is funding 41 studies including 10 research fellows in the United States, Canada, France, Italy, Belgium, Germany and The Netherlands.

For more information about Natalie's Wish and the Cystinosis Research Foundation of Irvine, Calif., call Zoe Solsby at (949) 223-7610 or visit

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    Art Barrett

    Zoe Solsby