SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

July 06, 2010 19:46 ET

Cystinosis Research Foundation Awards $988,759 in Grants to Find a Cure for Deadly, Genetic Disease

IRVINE, CA--(Marketwire - July 6, 2010) -  The Cystinosis Research Foundation of Irvine, Calif., announced it has awarded $988,759 in grants to seven specialized research studies in the United States, France, Belgium and Ireland that are focused on finding a cure for cystinosis and improving understanding of the rare, deadly metabolic and genetic disease. Cystinosis afflicts about 500 children and young adults in the U.S. and 2,000 worldwide.

"The $11.8 million in cystinosis research grants awarded to date has resulted in an important milestone. The CRF's mission to find a better treatment for cystinosis has been realized with the final Phase 3 clinical trial of Delayed-Release Cysteamine currently under way at Emory University and soon to be at several other sites in the U.S. and Europe. Without the concerted effort of CRF, we would not be where we are today. We are very close to unlocking the mysteries of this terrible disease," said Nancy Stack, CRF Trustee and President.

The CRF is the leading funding source for bench and clinical investigations of cystinosis worldwide.

The foundation's latest round of funding follows the recent formation of the CRF Cystinosis Gene Therapy Consortium. The consortium's goal is to advance progress on the most promising current findings, including moving novel therapeutic modalities into human patients as quickly as possible. Work is now under way at The Scripps Research Institute in La Jolla, Calif., to develop the necessary preclinical animal model data and translate these results into an FDA-approved clinical trial.

The CRF is launching 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 awards research grants in the spring and fall of each year. The latest round of funding awards were presented to researchers at the University of California campuses at Irvine and San Diego; Massachusetts General Hospital; State University of New York at Buffalo; University Hospital, Leuven, Belgium; University College, Cork, Ireland; and a team from the Institut de Biologie Physico-Chimique, Paris; and the University Medical Center, Mainz, Germany.

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.

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 advancements achieved thus far are the result of CRF's focused efforts and targeted approaches to research. We are dedicated to bringing the first stem cell and gene therapy clinical trial for cystinosis to reality. We hope that, if all goes well, there will be a clinical trial for a cure within the next two to three years," she said. The CRF currently is funding 48 research studies, including 13 research fellows worldwide.

Nancy Stack and her husband, Geoffrey, a managing director of the SARES•REGIS Group, an Irvine real estate company, have a daughter, Natalie, 19, 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.


Total: $988,759

Alan Davidson, PhD, Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts
"Characterization and Rescue of CTNS-iPS Cells"
$129,557 - 1 year grant

Bruno Gasnier, PhD, Principal Investigator
Institut de Biologie Physico-Chimique, Paris, France
Ellen Closs, PhD, Co-Investigator
University Medical Center, Mainz, Germany
"Molecular Study of Lysosomal Transporters Involved in the Cystine-depleting Effect of Cysteamine"
$169,384 - 2 year grant

Patrick Harrison, PhD, Mentor and Ciaran Lee, Research Fellow
University College, Cork, Ireland
"Cystinosis Gene Repair"
$146,258 - 2 year grant

Elena Levtchenko, MD, PhD, Mentor and Joost Schoeber, PhD, Research Fellow
University Hospital, Leuven, Belgium
"Studying Podocyte Function in Nephropathic Cystinosis"
$150,000 - 2 year grant

Miriam Britt Sach, MD, PhD, Principal Investigator
University of California, San Diego
"In Vivo ATP Metabolism in Cystinosis Patients as Assessed by MR Spectroscopy"
$109,493 - 1 year grant

Jennifer Simpson, MD, Principal Investigator
James Jester, PhD, Co-Investigator
University of California, Irvine
"Novel Treatment Modalities for Corneal Cystinosis"
$180,000 - 2 year grant

Mary Taub, PhD, Principal Investigator
State University of New York at Buffalo
"Mechanisms Underlying the Fanconi Syndrome in Cystinosis"
$104,067 - 1 year grant

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