Grants totaling more than $1.6 million were awarded by the Cystinosis Research Foundation for 11 new research projects seeking to cure cystinosis and advance new treatments for the rare metabolic and fatal disease. The newly funded studies include research focused on corneal cystinosis, muscle wasting and stem cells. Cystinosis afflicts about 500 children and young adults in the United States and about 2,000 worldwide.
The new CRF research will be under way at universities and hospitals in the United States, France, Belgium, Switzerland and New Zealand. Since 2003, the CRF has raised more than $19 million and funded 105 multi-year research studies and fellowships in 11 countries.
The CRF is the largest fund provider of cystinosis research. CRF-funded research led to discovery of a dramatic improvement in the life-saving medication and to the first allogeneic stem cell clinical pilot study for cystinosis which is being conducted at the Ronald Reagan UCLA Medical Center. Recently, two CRF-funded researchers were awarded NIH grants totaling more than $3 million, leveraging CRF grant money.
“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,” said Nancy Stack, CRF Trustee and President
Discoveries made by CRF funded researchers have helped advance potential treatments for more prevalent and well-known disorders and diseases such as Huntington’s and NASH, a progressive liver disease.
All of the foundation’s administrative costs are privately underwritten. The CRF issues calls for research proposals twice a year thereby ensuring a continuous cycle of cutting edge research.
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.
The CRF’s mission to find a better treatment for cystinosis has been realized with the discovery of Delayed-Release Cysteamine by researchers at UC San Diego. Raptor Pharmaceuticals, which holds the license for the CRF-funded research, has completed the necessary FDA clinical trials and has filed the New Drug Application (NDA) with the FDA. It is anticipated that the FDA will approve the new medication in the first quarter of 2013.
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, 21, with cystinosis.
2012 CRF SPRING RESEARCH GRANTS FUNDED
Corinne Antignac, MD, PhD, Principal InvestigatorNecker Hospital, Paris, France
“Characterization of Proteins Interacting with Cystinosin”
$212,000 – 2-year grant
Corinne Antignac, MD, PhD, Research Mentor
Zuzanna Andrzejewska, Research FellowNecker Hospital, Paris, France
“Role of Cystinosin in Vesicular Trafficking and Membrane Fusion”
$63,000 – 1-year grant
Bruce Barshop, MD, PhD, Research Mentor
Ilya Gertsman, PhD, Research FellowUniversity of California, San Diego
“Identification of Protein Thiol Modifications and Metabolic Markers of Disease in Cystinosis”
$63,625 – 1-year grant
Sergio Catz, PhD, Principal InvestigatorThe Scripps Research Institute, La Jolla, California
“Molecular Mechanisms to Repair the Vesicular Transport System in Cystinosis”
$72,375 – 2-year grant
Robert Chevalier, MD, Principal InvestigatorUniversity of Virginia, Charlottesville
“Oxidant Injury to Proximal Tubular Loss in Cystinosis”
$219,099 – 2-year grant
Pierre Courtoy, MD, PhD, Principal Investigator
Héloïse Gaide Chevronnay, PhD, Co-Principal InvestigatorDe Duve Institute, Brussels, Belgium
“Integrated Cellular and Tissular Physiopathology of Cystinosis in Cystinosin KO Mice and Correction Mechanisms upon Haematopoietic Stem Cell Grafting”
$210,000 – 2-year grant
Alan Davidson, PhD, Principal InvestigatorUniversity of Auckland, New Zealand
“Differentiation of Cystinotic Pluripotent Stem Cells into Kidney Tissue”
$46,449 – 1-year grant
Olivier Devuyst, MD, PhD, Principal Investigator
Sara Terryn, PhD, Co-Principal InvestigatorUniversity of Zurich, Switzerland
“Defective Transport and Epithelial Dedifferentiation: Genesis of Key Events in Nephropathic Cystinosis”
$212,500 – 2-year grant
Bruno Gasnier, PhD, Principal Investigator and Research Mentor
Bruno André, PhD, Co-Principal Investigator
Quinton Verdon, PhD, Research FellowUnivesrsite Paris Descartes, France
“Molecular Study of a Cystinosin Homologue and its Impact on Cystinosis and Cysteamine Therapy”
$214,984 – 2-year grant
Robert Mak, MD, PhD, Principal InvestigatorUniversity of California, San Diego
“Vitamin D and Muscle Wasting in Nephropathic Cystinosis”
$150,000 – 2-year grant
Jennifer Simpson, MD, Principal Investigator
Ghanashyam Acharya, PhD, Co-Principal InvestigatorUniversity of California, Irvine
“Nanowafer Drug Delivery for Corneal Cystinosis: Sustained-Release Cysteamine”
$199,749 – 2-year grant
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