News | September 3, 2014

Cystinosis Research Foundation Awards $1.5M In Grants To Researchers Seeking New Treatments For The Rare Disease


The Cystinosis Research Foundation awarded $1,552,574 to eight research programs in Asia, Europe and the United States to enable scientists to investigate improved 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.

This round of grants includes continued support for development of a nanowafer that, when placed in the eyes like contact lenses, will deliver medication to treat corneal cystinosis. Grants also were awarded for research in Texas and California, as well as New Zealand, Italy, France, Belgium, Switzerland and, for the first time, in India.

Click to Tweet: Cystinosis Research Foundation Awards $1.5 Million in Grants. #cystinosis @natalieswish

“Since 2003, the CRF has raised more than $25 million and has funded 122 multi-year studies and fellowships in 12 countries. CRF researchers and scientists are dedicated to providing us with a greater understanding of cystinosis and its complications. CRF-funded researchers have developed an improved treatment, and we are optimistic that within the next three years we will have an autologous stem cell treatment for cystinosis that very well might be the cure. Every study we fund yields crucial data that is necessary to the discovery of novel treatments and a cure,” said Nancy Stack, CRF Trustee and President.

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 patients’ lives, but there is no cure.

The 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. The scientific panel is headed by Dr. Corinne Antignac, the Paris researcher who first identified the CTNS gene in 1998.

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 at 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 de-identified 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-based 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. For more information, go to

Total: $1,552,574

Ghanashyam Acharya, PhD, Principal Investigator
Baylor College of Medicine, Houston, Texas
Jennifer Simpson, M.D., Co-Principal Investigator
University of California, Irvine
“Development of Extended Release Cysteamine Nanowafer”
$276,380 – 2-year grant (Sept. 1, 2014 – Aug. 31, 2016)

Anand Bachhawat, PhD, Principal Investigator
Indian Institute of Science Education and Research (IISER), Nagar, Punjab, India
“Genetic and Biochemical Studies on the Cystinosin Transporter Using a Novel Genetic Screen”
$82,500 – 2-year grant (Sept. 1, 2014 – Aug. 31, 2016)

Sergio Catz, PhD, Mentor
Zhang Jinzhong, PhD, Fellow
The Scripps Research Institute, La Jolla, California
“Improvement of Cellular Function Through Chaperone-Mediated Autophagy and Cellular Trafficking in Cystinosis”
$150,000 – 2-year grant (Sept. 15, 2014 – Sept. 14, 2016)

Pierre J. Courtoy, MD, PhD, Principal Investigator
Héloïse Chevronnay, PhD, Co-Principal Investigator
Christophe Pierreux, PhD, Co-Principal Investigator
de Duve Institute, UCL, Brussels, Belgium
“Testing Endocytosis-Based Injury with Double Megalin/Cystinosin KO Mice and Exploring Stem Cell: Epithetial Connectivity Across Basement Lamina”
$246,272 – 2-year grant (Sept. 1, 2014 – Aug. 31, 2016)

Alan Davidson, PhD, Principal Investigator
Teresa Holm, PhD, Co-Principal Investigator
The University of Auckland, Grafton, Auckland, New Zealand
“Cystinotic iPCSs: Generation of Proximal Tubule Cells and Role of the Malate-Aspartate Shuttle”
$207,757 – 2-year grant (Sept. 1, 2014 – Aug. 31, 2016)

Olivier Devuyst, MD, PhD, Mentor
Alessandro Luciani, PhD, Fellow
Institute of Physiology, UZH, Zürich, Switzerland
“Lysosomal Function, Autophagic Clearance and Junctional Integrity in Nephropathic Cystinosis”
$225,000 – 3-year grant (Sept. 1, 2014 – Aug. 31, 2017)

Francesco Emma, MD, Principal Investigator
Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
“In Vivo and In Vitro Drug Screening and Testing for Nephropathic Cystinosis”
$214,665 – 2-year grant (Sept. 1, 2014 – Aug. 31, 2016)

Bruno Gasnier, PhD, Mentor
Xavier Leray, PhD Candidate, Fellow
Université Paris Descartes, Neurophotonics Laboratory/ CNRS, Paris, France
“Mechanism and Modulation of Cysteamine Therapy”
$150,000 – 2-year grant (Oct. 8, 2014 – Oct. 7, 2016)

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