Cystinosis Research Foundation granted $2.15M in 2013 to researchers investigating cure for cystinosis

The Cystinosis Research Foundation awarded $2,153,048 in 2013 to researchers investigating better treatments and a cure for cystinosis, a rare metabolic and genetic disease that afflicts about 500 children and young adults in the United States and 2,000 worldwide.

Additionally, in 2013 the federal Food and Drug Administration gave final approval to an improved cystinosis treatment originally discovered by CRF-funded researchers.

"Although stem cell and gene therapy holds promise for a cure, the FDA approval of delayed-release cysteamine was the most significant improvement in the treatment of cystinosis in decades. The discovery and approval of the new treatment was a major CRF milestone. We continue to support the development of a novel treatment for corneal cystinosis and hope to have a clinical trial to test the new treatment this year. The new treatment, if successful, would be revolutionary and would replace the need for hourly eye drops to treat corneal cystinosis," said Nancy Stack, CRF Trustee and President.

"We continue to fund new research ideas which will provide us with a greater understanding of cystinosis and its complications. Every new study and finding brings us closer to answers about how to treat and cure cystinosis," Stack said.

The CRF has raised more than $23 million and funded 114 studies and fellowships in 11 countries since 2003. Eleven grants were awarded in 2013. CRF's fall grants totaling $857,671 were awarded to researchers in the United States, Italy and Germany. The CRF is the largest funding source for bench, clinical and translational research in the world.

"CRF is guided by a Scientific Review Board, a renowned group of cystinosis experts and scientists who evaluate every research application. Their expertise and leadership ensures that CRF funds only the most promising research studies aimed at solving the mysteries of the disease. We believe there will be an autologous stem cell trial for patients with cystinosis within four years," Stack said. The scientific panel is headed by Dr. Corinne Antignac, a researcher in Paris, France, who first identified the CTNS gene in 1998.

Dr. Stéphanie Cherqui, assistant professor, Department of Pediatrics, University of California, San Diego, again was awarded research funds for additional stem cell and gene therapy studies. Dr. Cherqui was working in Dr. Antignac's lab and was part of the team that discovered the cystinosis gene. She is a member of the Scientific Review Board and chairs the CRF Cystinosis Gene Therapy Consortium.

Cystinosis 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.

One of CRF's missions, to find a better treatment for cystinosis, was realized in 2013 with FDA approval on April 30 of a delayed-release form of cysteamine developed by CRF-funded researchers at University of California, San Diego. In addition, a delayed-release cysteamine 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, 23, with cystinosis. Every dollar raised by the CRF is committed for medical research. Administrative costs are privately underwritten.

2013 CRF RESEARCH GRANTS FUNDED
Total: $2,153,048

Ghanashyam Acharya, PhD
Baylor College of Medicine, Houston, Texas
"Delta Vision Deconvolution Imaging System"
$195,000 - Equipment Grant

The Delta Vision Deconvolution Imaging System will be used to conduct in vivo studies to optimize the nanowafer drug delivery system.

Angela Ballantyne, PhD, Principal Investigator
University of California, San Diego
"Patient-Reported Outcome and Health-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)

Ranjan Dohil, MD, Principal Investigator
University of California, San Diego
"Funding Support for Betty Cabrera's Curatorship of the Cure Cystinosis International Registry"
$87,217 - 3-year grant

Paul Goodyer, MD, Mentor
Emma Brasell, Research Fellow
Montreal Children's Hospital, Canada
"Novel Therapeutic Strategies for Cystinosis"
$75,000 - 3-year grant (September 1, 2013 - August 31, 2016)

Robert Mak, MD, PhD, Principal Investigator
Harold Hoffman, Professor, Co-Principal Investigator
University of California, San Diego
"Role of Proinflammatory Cytokines and Inflammasome Signaling in Nephropathic Cystinosis"
$259,754 - 2-year grant (February 1, 2014 - January 31, 2016)

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

Giusi Prencipe, PhD, Principal Investigator
Fabrizio De Benedetti, MD, PhD, Co-Principal Investigator
Bambino Gesù Children's Hospital, Rome, Italy
"Inflammasomes Activation in the Pathogenesis of Cystinosis"
$88,000 - 1-year grant (February 1, 2014 - January 31, 2015)

Matias Simons, MD, Principal Investigator
University of Freiburg, Freiburg, Germany
"A Drosophila Approach to Nephropathic Cystinosis"
$227,700 - 2-year grant (March 2, 2014 - February 2, 2016)