SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

March 10, 2010 12:58 ET

Leading Cystinosis Researchers to Meet in Irvine, Calif., for Second International Symposium on Rare, Deadly Disease

IRVINE, CA--(Marketwire - March 10, 2010) -  The Second International Cystinosis Research Symposium for scientists and researchers will be held April 8-9 at the Arnold and Mabel Beckman Center of the National Academies of Sciences and Engineering, adjacent to the University of California, Irvine.

More than 60 researchers and scientists from the United States and Europe are expected to attend the symposium, which is underwritten by the Cystinosis Research Foundation. The Foundation's goal for the symposium is to promote collaborations among researchers seeking better treatments and a cure for cystinosis, the rare and fatal disease that afflicts an estimated 500 people, mostly children, in the United States and 2,000 worldwide.

The Cystinosis Research Foundation is the world's largest provider of funds for cystinosis research.

"This represents the largest gathering of scientists in this rare-disease field. All of the researchers attending the symposium have been conducting bench and clinical research on cystinosis for several years. The symposium provides them a unique opportunity to meet and discuss their research progress. It fosters collegiality and cooperation which will advance treatments and the search for a cure," said Nancy Stack, Co-Founder and President of the Cystinosis Research Foundation of Irvine, Calif.

Cystinosis is a metabolic disease that slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. 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. This causes development of crystals, resulting in early cell death. There is a drug, cysteamine, that can prolong the patient's life, but there is no cure. Almost all sufferers succumb before 40 years old.

Investigators from the United States, Canada, Belgium, France, Germany, Italy and The Netherlands, whose work is funded by the CRF, are scheduled to deliver 31 presentations on various aspects of cystinosis research. The two-day event opens with a keynote address by the symposium's chairman, Dr. Jerry Schnieder of the University of California, San Diego, and concludes with remarks by Dr. William Gahl, clinical director of the National Human Genome Research Institute, part of the National Institute of Health. The first symposium was held in 2008.

Since its formation in 2003, the CRF has funded more than $10.8 million in cystinosis research. Twice a year the CRF puts out a worldwide call to the scientific community for research proposals. Currently, the CRF is funding 31 studies and 10 research fellows in North America and Europe.

Also attending are officials from Raptor Pharmaceuticals Inc., which is scheduled to begin Phase Three trials on slow-release DR Cysteamine, a treatment that was developed with CRF grants awarded to Dr. Schneider and Dr. Ranjan Dohil of University of California, San Diego. Raptor Pharmaceuticals is a symposium sponsor.

Development of DR Cysteamine represents the first treatment breakthrough in 20 years. It cuts the patient's dosing frequency of the medication from six hours to 12 hours. As a result of taking the medication less frequently, compliance improves, side effects are reduced and most importantly, children are able to sleep through the night.

The DR Cysteamine also has demonstrated potential in clinical studies as a treatment for other metabolic and neurodegenerative diseases, including Huntington's Disease, Batten Disease and NASH fatty liver disease.

Stack founded the CRF with her husband, Geoffrey, a managing director of the SARES REGIS Group, a diversified real estate company in Irvine. The Stacks' daughter Natalie, 19, was diagnosed with cystinosis as an infant.

The Cystinosis Research Foundation is dedicated to finding better treatments to improve the quality of life for those with cystinosis and to finding a cure for this devastating disease. The CRF raises funds to support bench and clinical research aimed at improved treatments and a cure for cystinosis. The CRF also seeks to educate the medical and public communities about cystinosis to ensure early diagnosis and proper treatment.

For more information, call the Cystinosis Research Foundation at 949-223-7610 or visit

Contact Information

  • Contact:
    Zoe Solsby
    (949) 223-7610
    Art Barrett
    (714) 602-6021