SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

August 12, 2013 12:56 ET

Cystinosis Research Foundation Awards $1.29 Million in Grants to Find a Cure for Deadly Genetic Disease

IRVINE, CA--(Marketwired - Aug 12, 2013) -  Six grants totaling $1,295,377 were issued to cystinosis researchers investigating better treatments and a cure for the disease by the Cystinosis Research Foundation in its first round of proposals in 2013. Included is funding for additional research on stem cell and gene therapy, which holds the greatest promise to cure the rare, deadly metabolic and genetic disease. Cystinosis afflicts about 500 children and young adults in the United States and 2,000 worldwide.

"A cure is within sight. These new studies will accelerate the research process and will provide the critical data we need to realize our goal of finding a cure for cystinosis. CRF funded research has led to new research discoveries and treatments for cystinosis and as an unexpected, positive result, helped other more prevalent diseases such as Parkinson's and Huntington's disease. We believe that there will be an autologous stem cell trial for patients with cystinosis within three to four years. We are committed to continue to fund research until we find the cure," said Nancy Stack, CRF Trustee and President.

The CRF's spring grants were awarded to research programs at hospitals and universities in the United States and Canada. In the last 11 years the CRF has raised more than $22 million and has funded 108 studies and fellowships in 11 countries. The CRF is the only funding source for bench and clinical investigations of cystinosis worldwide.

"CRF is guided by a Scientific Review Board, a world renowned group of cystinosis experts and scientists who evaluate every research application we receive. Their expertise and leadership ensures that CRF funds only the most promising research studies. These new research projects are important in the sequence of solving the mysteries of this disease," Stack said. The scientific panel is headed by Dr. Corinne Antignac, a Paris researcher who first identified the CTNS gene in 1998. 

Dr. Stéphanie Cherqui, assistant professor Department of Pediatrics, University of California, San Diego, was on Dr. Antignac's team that discovered the cystinosis gene. She is a member of the Scientific Review Board and chairs the CRF Cystinosis Gene Therapy Consortium. Dr. Cherqui's work, in 2009 reversed the disease and halted tissue damage in mice.

Cystinosis is a metabolic disease that slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. There is a medicine, cysteamine that prolongs the children's lives, but there is no cure.

CRF's mission to find a better treatment for cystinosis was realized with the discovery of delayed-release cysteamine by researchers at UC San Diego. In 2008, Raptor Pharmaceuticals bought the worldwide license for the CRF-funded research and completed the necessary clinical trials to bring the drug to market and after years of waiting, Raptor received FDA approval on April 30, 2013. The drug will be sold under the name Procysbi™. In addition, cysteamine and its delayed-release formula is being used in clinical trials for Huntington's disease and NASH, a progressive liver disease.

The CRF also has launched the Cure Cystinosis International Registry (CCIR), whose purpose is to consolidate information about cystinosis patients into a single data repository which will help advance research and clinical trials leading to future treatments and cures.

Stack and her husband, Geoffrey, a managing director of the SARES•REGIS Group, an Irvine real estate company, have a daughter, Natalie, 22, with cystinosis.

Every dollar raised by the CRF is committed for medical research. Administrative costs are privately underwritten. For more information, go to


Angela Ballantyne, PhD, Principal Investigator
University of California, San Diego
"Patient-Reported Outcome and Healthy-Related Quality of Life in Adults with Cystinosis: A Study Utilizing the NIH PROMIS"
$44,923 - 1-year grant (February 1, 2013 - January 31, 2014)

Sergio Catz, PhD, Mentor
Gennaro Napolitano, PhD, Fellow
The Scripps Research Institute, La Jolla, California
"Small Molecule Regulators of Vesicular Trafficking to Enhance Lysosomal Exocytosis in Cystinosis"
$74,938 - 1-year grant (October 1, 2013 - September 30, 2014)

Stéphanie Cherqui, PhD, Principal Investigator
University of California, San Diego
"Mechanism of Bone Marrow Stem Cell-Mediated Therapy in the Mouse Model of Cystinosis"
$344,337 - 2-year grant (September 1, 2013 - August 31, 2015)

Stéphanie Cherqui, PhD, Principal Investigator
University of California, San Diego
"Pharmacology/ Toxicology Studies for Gene-Modified Stem Cell Transplantation for Cystinosis"
$499,971 - 3-year grant (September 1, 2013 - August 31, 2016)

Paul Goodyer, MD, Mentor
Emma Brasell, Research Fellow
Montreal Children's Hospital, Canada
"Novel Therapeutic Strategies for Cystinosis"
$25,000 - 1-year grant (September 1, 2013 - August 31, 2014)

Daryl Okamura, MD
Seattle Children's Research Institute, Washington
"Eludicating the Role of Aberrant Macrophage Activation in Nephropathic Cystinosis"
$256,208 -2-year grant (September 1, 2013 - August 31, 2015)

Contact Information

  • Contact:
    Zoe Solsby
    Email Contact
    (949) 223-7610
    Vice President
    Cystinosis Research Foundation