SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

February 07, 2017 10:00 ET

Cystinosis Research Foundation Grants Support Scientific Studies on Cell Function, New Treatments and the Quest for a Cure

$2.79 Million Awarded in 2016 to Fund 17 Research Projects in Five Countries; Bench Research for Stem Cell Treatments, Nano-Wafer, May Go to Clinical Trial

IRVINE, CA--(Marketwired - Feb 7, 2017) - The Cystinosis Research Foundation, the largest provider of grants for cystinosis research in the world, in 2016 awarded $2.79 million in research grants to researchers in five countries, funding 17 scientific studies on the pathology, treatment and potential cures for the disease.

Cystinosis is a rare, incurable metabolic disorder that afflicts 500 children and young adults in the United States and approximately 2,000 people worldwide. It slowly destroys the organs in the body (including the kidneys, liver, eyes, muscles and brain) due to a buildup of the amino acid cystine that crystallizes and kills the cells.

The 2016 grants, funded by donations from the 2016 Natalie's Wish gala and golf tournament and donations from cystinosis family events throughout the year, are supporting research in the United States, Belgium, France, Italy and New Zealand. They include:

  • 9 cellular and molecular studies into the pathogenesis of the disease
  • 2 stem cell/gene therapy studies
  • 5 studies into new drug discoveries
  • 1 neurological research study

CRF-funded research has led to new discoveries about the pathogenesis of cystinosis and has helped unlock the mysteries of this rare disease. The foundation anticipates that there will be FDA approval this year for clinical trials to advance an autologous stem cell treatment and the development of a nanowafer treatment for corneal cystinosis.

"A lot of the research conducted by CRF funded scientists has far-reaching implications for other disorders." said CRF Founder Nancy Stack. "Although the cystinosis community is small, knowledge discovered by studying our disease has led to advancements in the discovery of potential treatments for other diseases such as Huntington's disease, Parkinson's disease and other systemic disorders similar to cystinosis. 

"Our work in the area of nanotechnology and corneal cystinosis will undoubtedly help other corneal diseases. The stem cell work conducted by Stéphanie Cherqui, Ph.D., (UCSD) will help treat other lysosomal and even neuro-muscular degenerative disorders. CRF research extends far beyond our community; it has the potential to treat millions of other people who suffer from other disorders."

Since 2003, the Cystinosis Research Foundation has issued 151 cystinosis research grants in 12 countries. Among other advancements in the study of the disease, CRF funded the development of delayed-release cysteamine medication, approved in 2013 by the U.S. Food and Drug Administration.

Donations made to CRF go directly to fund cystinosis research.
This year's research grant awards include:

United States
The Scripps Research Institute, La Jolla, California

  • $256,795, to Sergio Catz, Ph.D., "Molecular Trafficking Regulators of Dynamic Organelles in Cystinosis"
  • $75,000 to Sergio Catz, Ph.D., and Jinzhong Zhang, Ph.D., "Improvement of Cellular Function through Chaperone-Mediated Autophagy and Cellular Trafficking in Cystinosis"

University of California, San Diego, California

  • $160,589 to Ilya Gertsman, Ph.D., and Bruce Barshop, M.D., Ph.D, "Elucidation of Altered Metabolism and Biomarkers in Cystinosis Using Large-Scale Metabolomics Approaches"
  •  $141,082 to Stéphanie Cherqui, Ph.D., "Accelerated Research Program for Stem Cell Research"
  • $62,895 to Doris Trauner, M.D.,"Sleep Disturbance and Memory Function in Nephropathic Cystinosis"

Thiogenesis Therapeutics, Inc., San Diego, California

  • $153,900 to Vincent Stanton, Jr., M.D., and Patrice Rioux, M.D., Ph.D., "Pharmacokinetic Evaluation and Optimization of Cysteamine Precursors"

Harvard Medical School, Boston, Massachusetts

  • $225,000 to Norbert Perrimon, Ph.D., and Patrick Jouandin, Ph.D., "Profiling Metabolic Dysfunction Caused by Cystinosis."

Massachusetts General Hospital, Boston, Massachusetts

  • $96,129 to Florian Eichler, M.D., and Sherman Alexander, M.S.c., "Clinical Trial Readiness for Distal Myopathy in Nephropathic Cystinosis (DMNC)"

University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

  • $155,484 to Morgan Fedorchak, Ph.D., and Kanwal Nischal, M.D., FRCO, "Development of a Topical, Controlled Release Cysteamine Eye Drop"

Belgium
De Duve Institute, Brussels

  • $209,344, to Pierre Courtoy, M.D., Ph.D., and Christopher Pierreux, Ph.D., "Evaluation of Ctns -/- Mice Protection by Oral Supplementation with Basic Amino-Acids: Focus on Kidneys"

France
Imagine Institute, Paris, France

  • $310,000, to Corrine Antignac, M.D., Ph.D., "Characterization of mTORC1 Signaling in Early Pathogenesis of Cystinosis"
  • $91,553 to Matias Simons, M.D., "Lessons from the Fruit Fly. How Cells Cope with Cystinosin Deficiency."

Paris Descartes University, France

  • $225,000 (a three-year grant) to Bruno Gasnier, Ph.D., and Yann Terres, M.S.c, "Mechanism and Pathophysiological Significances of a Genetic Interaction of Cystinosin"
  • $75,000 to Bruno Gasnier, Ph.D., and Rossella Conti, Ph.D., "Biophysical Study of Cystinosin and PQLC2"

Italy
Bambino Gesù Children's Hospital, Rome, Italy

  • $229,660 to Francesco Emma, M.D., and Laura Rega, Ph.D., "Alternative Therapies for Nephropathic Cystinosis"
  • $180,400 to Giusi Pencipe, Ph.D., and Fabrizio De Benedetti, M.D., Ph.D., "NLRP2 in the Pathogenesis of Cystinosis."

New Zealand
The University of Auckland, New Zealand

  • $145,852 to Alan Davidson, Ph.D., and Teresa Holm, M.D., Ph.D., "Kidney Organoids: A New Model to Study Cystinosis."

About the Cystinosis Research Foundation
The Cystinosis Research Foundation is dedicated to finding better treatments to improve the quality of life for those with cystinosis and to ultimately find a cure for this devastating disease. Since 2003, it has raised and committed more than $35 million to support bench, clinical and translational research to find better treatments and a cure for cystinosis. The foundation is dedicated to educating the public and medical community about cystinosis to ensure early diagnosis and proper treatment. Visit us on Facebook or www.cystinosisresearch.org.

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