CRF Funds Five New Scientific Studies Totaling $662,658

November 26, 2007

The Cystinosis Research Foundation of Irvine, Calif., has funded grants for five new scientific research studies 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. The grants funded total $662,658.

Three of the studies are with researchers at University of California campuses in San Diego and Irvine. Two investigations are with leading cystinosis researchers in France, which has a proportionally high rate of sufferers of the fatal ailment, announced Geoffrey Stack, CRF president.

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. These new studies bring the number of current bench and clinical studies to 23 in the U.S., France, Italy and the Netherlands. To date, the current and previous CRF-funded investigations total $4.7 million. They are producing greater understanding of cystinosis as well as advancements toward improved treatments and a cure, Stack said.

“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,” said Stack, who is an owner of the SARES●REGIS Group, an Irvine real estate company. Stack and his wife, Nancy, have a daughter, Natalie, 16, who suffers from cystinosis.

CRF was formed in 2003 and has raised $6.225 million, all of which has been spent or is earmarked for medical research. The five studies represent the first phase of funded cystinosis research this year. They are:

“Practical Aspects of Intracellular Cystine Measurements”
Bruce Barshop, MD, PhD and Jerry Schneider, MD,
University of California, San Diego -- $109,886 – One-year study

“One Year Treatment Study of Enteric-Coated Cysteamine in Patients with Cystinosis”
Ranjan Dohil, MD
University of California, San Diego – $99,688 – One-year study

“Molecular and Pathogenesis Study of Cystinosis”
Taosheng Huang, MD, PhD – Mentor
Sha Tang, PhD – Postdoctoral Fellow
University of California, Irvine - $125,084 – Two-year fellowship

“Identification and Characterization of the Lysosomal Transporter Involved in Cysteamine-Mediated Cystine Efflux”
Bruno Gasnier, PhD
Institut de Biologie Physico-Chimique, Paris, France – $243,000 – Two-year study

“Characterization of Cystinosin Intracellular Trafficking”
Corinne Antignac, MD, PhD
Hospital Necker, Paris, France - $85,000 – One-year study

The CRF’s Scientific Review Board, which reviewed the grant applications, consists of the following:

Chairperson

Jerry A. Schneider, MD
Research Professor of Pediatrics
Dean for Academic Affairs Emeritus (RTAD)
University of California, San Diego

Board Members

Corinne Antignac, MD, PhD
Department of Genetics
Director of Inserm Research Unit U574
Hospital Necker-Enfants Maades
Paris, France

Michel Baum, MD
Professor of Pediatrics and Internal Medicine
Charles and Sara Seay Chair in Pediatric Research
University of Texas Southwestern Medical Center
Dallas, Texas

Adam J. Jonas, MD
Chairman, Department of Pediatrics
Harbor-UCLA Medical Center
Professor Pediatrics
Geffen School of Medicine at UCLA

Robert Kleta, MD, PhD
Potter Chair of Nephrology
University College London
Royal Free Hospital / Medical School
London, United Kingdom

William Rizzo, MD
Department of Pediatrics
Chief, Inherited Metabolic Diseases
University of Nebraska Medical Center

For more information about the Cystinosis Research Foundation, call Zoe Solsby at (949) 223-7610 or visit www.natalieswish.org.