Rare Disease Report

Cystinosis Research Foundation Awards $1.5 Million in Grants to Researchers

SEPTEMBER 04, 2014
RDR Staff

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.

Nancy Stack, CRF Trustee and President stated, “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.”
he research grants were funded following extensive review by CRF’s Scientific Review Board led by Dr. Corinne Antignac, who first identified the CTNS gene in 1998.

2014 CRF Spring Research Grant Recipients are:

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)

About Cystinosis

Cystinosis is an autosomal recessive, metabolic disease in which the amino acid cystine accumulates in various organs of the body such as the kidney, eye, muscle, pancreas, and brain.
There are three clinical forms of cystinosis. Infantile (or nephropathic) cystinosis; late-onset cystinosis; and benign cystinosis. Of these, infantile cystinosis is the most severe and usually diagnosed between 6 and 18 months of age.  Common symptoms include excessive thirst and urination, failure to thrive, rickets, and episodes of dehydration. Children with cystinosis can also develop crystals in their eyes (after one year of age) and without specific treatment, develop end-stage renal failure may occur at approximately 9 years of age. Kidney transplantation has proven very helpful in patients with cystinosis.

Orphan drugs approved for cystinosis include
Cystagon (cysteamine) and Procysbi (extended release cysteamine)  are approved to  nephropathic cystinosis.
Cystaran (cysteamine eye drops) to treat corneal cysteine crystal accumulation in patients with cystinosis

Image of eye before and after patient with cystinosis received cysteamine drops courtesy NIH.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.