SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

July 14, 2011 12:46 ET

Cystinosis Research Foundation Awards $1.07 Million in Grants to Find a Cure for Deadly, Genetic Disease

IRVINE, CA--(Marketwire - Jul 14, 2011) - The Cystinosis Research Foundation of Irvine, Calif., awarded $1,070,458 in grants for five scientific studies on cystinosis in the United States and Belgium. The awards, which include a fellowship and continuing funding of breakthrough progress in stem cell therapy in California, are aimed at finding a cure for the rare, deadly metabolic and genetic disease. Cystinosis afflicts about 500 children and young adults in the U.S. and 2,000 worldwide.

"These studies will produce important data to help guide us toward a cure, which is within sight. Eight years, 83 studies and 14 fellowships funded by CRF grants totaling $12.9 million have enabled us to turn the corner on understanding cystinosis. Research we funded is producing the first new treatment in 35 years. More importantly, we believe a cure is perhaps two years away," said Nancy Stack, Trustee and President.

The greatest prospect for a cure is being advanced by CRF-funded work under way at The Scripps Research Institute in La Jolla, Calif., with the CRF Cystinosis Gene Therapy Consortium. Researchers there are producing data that describe in detail how a functioning gene transplanted in 2009 into mice with cystinosis successfully reversed the disease and halted tissue damage. This data is needed to proceed to a federal Food And Drug Administration-approved clinical trial.

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 that prolongs the children's lives, but there is no cure. Most cystinosis sufferers succumb to the disease or its complications by age 40. The CRF is the leading funding source for bench and clinical investigations of cystinosis worldwide.

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.

The CRF's mission to find a better treatment for cystinosis has been realized with completion of Phase 3 clinical trials of Delayed-Release Cysteamine. Raptor Pharmaceuticals, which has licensed the CRF-funded research and is conducting the tests, anticipates FDA approval next year.

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.

The CRF calls for proposals twice a year. In addition to the two-year study at Scripps, two other grants went to Scripps researchers. Grants also were awarded to researchers at the De Duve Institute in Brussels and the Seattle Children's Research Institute.

Nancy Stack and her husband, Geoffrey, a managing director of the SARES•REGIS Group, an Irvine real estate company, have a daughter, Natalie, 20, with cystinosis.

Every dollar raised by the CRF is committed for medical research. Administrative costs are privately underwritten. All grants are awarded based on evaluations by the CRF's Scientific Review Board, which is comprised of leading doctors and research scientists in the field.

2011 CRF Spring Research Grants Funded

Total Amount of Awards: $1,070,458

1. Sergio Catz, PhD, Mentor with Fellow
The Scripps Research Institute
"Small molecule regulators of vesicular trafficking to enhance lysosomal exocytosis in cystinosis."
Grant Award: $129,050, two-year study.

2. Stephanie Cherqui, PhD
The Scripps Research Institute
"Mechanism of bone marrow stem cell-mediated therapy in the mouse model of cystinosis."
Grant Award: $401,574, two-year study.

3. Pierre Courtoy, MD and Heloise Chevronnay, PhD
De Duve Institute, Brussels, Belgium
"Cellular and tissular mechanisms for stem cell therapy of epithelial cells in a mouse model of cystinosis coping with tissue heterogeneity."
Grant Award: $126,618, one-year study.

4. Ranjan Dohil, MD
University of California, San Diego
"Two year funding proposal for Betty Cabrera, BS, MPH."
Grant Award: $194,250, two-year study.

5. Daryl Okamura, MD and Allison Eddy, MD
Seattle Children's Research Institute
"Elucidating the role of cystinosin-deficient macrophages in nephropathic cystinosis."
Grant Award: $218,966, two-year study.

The Cystinosis Research Foundation is the largest non-profit provider of funds for cystinosis research in the world. For more information, call Zoe Solsby at (949) 223-7610 or visit

Contact Information

  • Zoe Solsby
    (949) 223-7610

    Art Barrett
    (714) 602-6021