Skip to Content

Scientific Abstracts On Cystinosis Research Are Published In October Issue of Pediatric Nephrology

IRVINE, Calif.--(BUSINESS WIRE)--Sep 18, 2008 - Twenty-six scientific abstracts by international researchers studying the cause and treatments for cystinosis, a rare and fatal metabolic disease that afflicts mostly children, have been published in the October 2008 issue of Pediatric Nephrology. The abstracts also can be reviewed at:, the website of the Cystinosis Research Foundation, which has committed more than $6.5 million for research.

"These abstracts recently were presented at the Cystinosis Research Foundation's first international symposium in Irvine, Calif. I believe the collegial exchange of these important findings and their speedy publication in this respected medical journal will hasten progress in the fight against this terrible disease," said Dr. Jerry Schneider, a professor of pediatric research at the University of California, San Diego, and chair of the two-day symposium.

Cystinosis is a disorder 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 of age. The disease afflicts an estimated 500 people, mostly children, in the United States and 2,000 worldwide.

More than 40 investigators from the United States, France, Germany, England, Italy, Belgium and The Netherlands attended the two-day symposium in April at the Arnold and Mabel Beckman Center of the National Academies of Sciences and Engineering, adjacent to the University of California at Irvine. Some of these investigators have been studying cystinosis for many years. All the research presented was funded by grants from the CRF of Irvine.

"The symposium also was unusual in that it included not only major researchers in this field but researchers new to the field. Several investigators who had just received funding to study cystinosis told me how much they learned about cystinosis at the symposium and how helpful it would be to their research plans," Dr. Schneider said.

"I think many of the participants made contacts that will lead to important cooperative efforts. Additionally, several participants were able to meet a cystinotic patient for the first time in their careers," he said.

The scientific exchange was sponsored by the CRF, Sigma-Tau Pharmaceuticals Inc. and Bennu Pharmaceuticals Inc., which recently obtained an exclusive, worldwide license for EC Cysteamine. EC Cysteamine was developed with CRF grants by Drs. Schneider and Ranjan Dohil at the University of California at San Diego.

Development of EC Cysteamine represents the first breakthrough in treatment in 20 years. It cuts the patient's dosing frequency of the medication from every 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 active ingredient in EC Cysteamine also has demonstrated potential in clinical studies as a treatment for other metabolic and neurodegenerative diseases, including Huntington Disease and Batten Disease.

Drs. Dohil and Schneider, pediatric professors at the UCSD's School of Medicine, co-chaired the event. Dr. Schneider, chairman of the CRF's Scientific Review Board, has been involved in cystinosis research for more than 40 years.

The CRF was founded by Geoffrey and Nancy Stack. Mr. Stack is a managing director of the SARES-REGIS Group, a diversified real estate company in Irvine. The Stacks' daughter Natalie, 17, 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 toward 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.

Since its formation in 2003, the CRF has raised more than $8.3 million, making the CRF the largest non-profit provider of cystinosis research in the world. To date, the CRF has funded and committed more than $6.5 million to cystinosis research and has funded more than 49 research studies and fellowships. Today, with the support of CRF's friends and community, the foundation has significantly changed the course of cystinosis research. CRF's funding efforts have allowed talented doctors and researchers in the area of cystinosis to initiate novel research studies and to advance their research efforts.

The CRF recently announced it has funded or made commitments of $1,316,361 for nine new scientific research studies in the United States and Europe aimed at finding better treatments and a cure for cystinosis. A second global call for research proposals and fellowship grants will go out this fall. Currently the CRF funds studies with researchers in The Netherlands, France, Germany, Italy and the United States.

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


Cystinosis Research Foundation
Zoe Solsby, 949-223-7610
Art Barrett, 714-309-3700

Posted: September 2008