Cystinosis Research Foundation Awards $1,316,361 for Nine Cystinosis Research Studies

July 22, 2008

The Cystinosis Research Foundation of Irvine, Calif., 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 rare metabolic disorder that afflicts about 500 children and young adults in the United States and 2,000 worldwide.

“With more than $6.5 million committed to cystinosis research by the CRF to date, our foundation is the leading funding source for bench and clinical investigations worldwide. These efforts have produced a greater understanding of cystinosis as well as the most significant advancements yet toward improved treatments and a cure,” said Nancy Stack, CRF president.

Four of the nine new studies are for research efforts in France. One study is in Italy, one is in Belgium and three are in the United States at the University of California at Irvine, The Scripps Research Institute in La Jolla, Calif., and State University of New York in Buffalo.

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.

“Cystinosis is a metabolic disease that eventually, slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. There is a medicine that prolongs the children’s lives, but there is no cure. Almost all sufferers succumb before 40 years old,” Stack said.

Nancy Stack and her husband, Geoffrey, an owner of the SARES●REGIS Group, an Irvine real estate company, have a daughter, Natalie, 17, with cystinosis.

The CRF was formed in 2003 and has raised $8.3 million, all of which is committed for medical research. Currently, the CRF has 26 ongoing studies with researchers in the United States and throughout Europe. The nine new studies were among 14 proposed following a call for research proposals issued earlier this year. A second global call for research proposals and fellowship grants will go out this fall. All grants are awarded based on evaluations by the CRF’s Scientific Review Board. The nine grants awarded this year by the CRF are:

Corinne Antignac M.D., Ph.D.
Hospital Necker, Paris, France
“ Characterization of the Interaction of Cystinosin with Galectin-3 and Vacuolar H+ - ATPase”
$230,000 – 2 year study

Stephanie Cherqui, Ph.D.
Daniel Soloman, M.D.
The Scripps Research Institute, La Jolla, California
“Treatment of Cystinosis Nephropathy using Ureteral Ijection of Adeno-associated Virus Expressing CTNS”
$249,128 - 1 year study

Francesco Emma, M.D.
Anna Taranta, Ph.D.
Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
“Identification and Analysis of Cis- and Trans-acting Elements that Activate the CTNS Gene”
$125,140 - 2 year study

Bruno Gasnier, Ph.D., Mentor
Xiong Chen, Ph.D., Fellow
Institut de Biologie Physico-Chimique, Paris, France
“Molecular Anatomy and Physiology of Human Cystinosin”
$223,200 – 3 year study

Vasiliki Kalatzis, Ph.D.
Eric J. Kremer, Ph.D.
Institut Génétique Moléculaire Montpellier, Montpellier, France
“Gene Transfer Studies for Cystinosis”
$66,900. - 1 year study

Vasiliki Kalatzis, Ph.D., Mentor
Claire Hippert, Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
“Gene Transfer Studies for Cystinosis”
$63,300 - 1 year study

Elena Levtchenko, M.D., Ph.D., Lambertus van den Heuvel, Ph.D., Francesco Emma, M.D., Mentors
Wilmer Martijn, Fellow
University Hospital Leuven, Belgium
“Pathogenesis of Renal Disease in Nephropathic Cystinosis”
$165,000 - 2 year study

Jennifer Simpson, M.D.
James Jester Ph.D.
University of California, Irvine
“Evaluation of Novel Corneal Imaging and Therapeutics in the CTNS Knockout (Cystinosis) Mouse Model”
$89,399 - 2 year study

Mary L. Taub, Ph.D.
State University of New York at Buffalo
“Mechanisms Underlying the Fanconi Syndrome in Cystinosis”
$104,294 - 1 year study

The Cystinosis Research Foundation’s mission is two-fold and focused: to find better treatments and a cure for cystinosis. Funding quality research studies remains a priority and is an ongoing process. The CRF announces two global calls for research proposals in the spring and fall of each year. After evaluation by our Scientific Review Board, research grants are issued. In 2006, the CRF established the first Cystinosis Research Fellowship Program designed to support scientists and new researchers who have an interest in cystinosis research.

To date, the CRF has funded and committed over $6.5 million to cystinosis research and has funded more than 49 research studies and fellowships. Today, with the support of our friends and community we have significantly changed the course of cystinosis research. Our funding efforts have allowed talented doctors and researchers in the area of cystinosis to initiate novel research studies and to advance their research efforts.

This past year has been a year of new research developments and significant advancements in the treatment of cystinosis. The research funded at the University of California, San Diego (UCSD) has resulted in the development of a slow-release form of cysteamine. Late last year, Raptor

Pharmaceuticals Corp.’s subsidiary, Bennu Pharmaceuticals, Inc., acquired the worldwidelicense for the slow-release form of cysteamine from UCSD. They are committed to improving and advancing the slow-release drug and applying to the FDA for approval of the new drug in 2009. The slow-release medication will be a reality for all of our children in the near future.

The Cystinosis Research Foundation’s primary focus is to find a cure for cystinosis. In April, we met with a team of CRF-funded scientists from Scripps Institute in La Jolla, who presented us with a plan that will lead to clinical trials in children with cystinosis. The clinical trials will test new therapies that they believe and hope will lead to a cure for cystinosis. Although we are at least five years away from possible clinical trials to test for a cure in patients with cystinosis, their plan holds the first real promise that a cure for cystinosis is a possibility.

Our first CRF International Cystinosis Research Symposium was recently held at the prestigious Arnold and Mabel Beckman Center of the National Academies of Engineering and Science on the UCI campus. The event was attended by more than 60 researchers from the United States and Europe who have been working to achieve better treatments and a cure for cystinosis. Twenty-four researchers funded by CRF presented their current bench and clinical studies on cystinosis.

“The symposium was very important for cystinosis because many of the participants began sharing information on their research efforts – information that generally isn’t shared until it’s published, which often takes months or years. This can only help accelerate new medical and scientific advancements we’ve been working to achieve for so many years,” said Dr. Jerry Schneider, co-chairman of the symposium. The Second CRF International Cystinosis Research symposium is scheduled for April 8-9, 2010.

For more information on the CRF, go to www.natalieswish.org or call Zoe Solsby at 949-223-7610.