Grants Awarded

Since 2003, the Cystinosis Research Foundation has committed and funded more than $14.9 million in cystinosis research, making the CRF the largest provider of grants for cystinosis research in the world. CRF is currently funding 27 on-going research studies and fellowships. Our dedicated researchers and scientists are working in nine countries around the world to find better treatments and a cure for cystinosis.

2011  RESEARCH STUDIES
FUNDED AND COMMITTED
Total:  $2,021,048

Angela Ballantyne, PhD, Principal Investigator
Doris Trauner, MD, Co-Investigator
Dept. of Neurosciences, University of California San Diego
"Patient-Reported Outcome and Health-Related Quality of Life in Adults with Cystinosis: A Study Utilizing the NIH "PROMIS"
$51,260 - 1-year grant

Bruce Barshop, MD, PhD
University of California, San Diego
"Tandem Mass Spectrometer Support"
$121,130 - 1-year grant

Sergio Catz, PhD, Mentor, Gennaro Napolitano, PhD, Research Fellow
The Scripps Research Institute, La Jolla, California
"Small Molecule Regulators of Vesicular Trafficking to Enhance Lysosomal Exocytosis in Cystinosis." 
$129,050 - 2-year grant

Stephanie Cherqui, PhD, Principal Investigator
The Scripps Research Institute, La Jolla, California
"Mechanism of Bone Marrow Stem Cell-Mediated Therapy in the Mouse Model of Cystinosis." 
$401,574 - 2-year grant

Stephanie Cherqui, PhD, Mentor
Brian Yeagy, PhD, Research Fellow
The Scripps Research Institute, La Jolla, California
"Stem and Gene Therapy for Cystinosis"
$72,503 - 1-year grant

Pierre Courtoy, MD, Principal Investigator
Heloise Chevronnay, PhD, Co-Principal Investigator
De Duve Institute, Brussels, Belgium
"Cellular and Tissular Mechanisms for Stem Cell Therapy of Epithelial Cells in a Mouse Model of Cystinosis Coping with Tissue Heterogeneity." 
$126,618 - 1-year grant

Ranjan Dohil, MD
University of California, San Diego
"A Study to Evaluate Enteric-Coated Cysteamine Therapy in Patients with Cystinosis"
$52,767 - 2-year grant

Ranjan Dohil, MD
University of California, San Diego
"Two Year Funding Proposal for Betty Cabrera, BS, MPH."
$194,250 - 2-year grant

Francesco Emma, MD, Principal Investigator
Bambino Gesú Children's Hospital and Research Institute
Maria Antonietta De Matteis, MD, Co-Principal Investigator
Telethon Institute of Genetics and Medicine
"Drug Library Screening to Improve the Outcome of Nephropathic Cystinosis"
$323,150 - 2-year grant

Elena Levtchenko, MD, PhD, Principal Investigator
Department of Pediatric Nephrology, University Hospitals Leuven
Maria Antoniette De Matteis, MD , Co-Principal Investigator
Telethon Institute of Genetics and Medicine
"The Role of Altered Calcium and mTOR Signaling in the Pathogenesis of Cystinosis"
$258,500 - 1-year grant

Dr. Tara McMorrow
University College Dublin
Prof. Philip Newsholme
Biomedical Sciences, Curtin University
"Role of Nitric Oxide in the Kidney Proximal Tubular Dysfunction Associated with the Fanconi Syndrome in Cystinosis"
$71,280 - 1-year grant

Daryl Okamura, MD, Principal Investigator
Allison Eddy, MD, Co-Principal Investigator
Seattle Children's Research Institute, Washington
"Elucidating the Role of Cystinosin-Deficient Macrophages in Nephropathic Cystinosis." 
$218,966 - 2-year grant

2010 REARCH STUDIES
FUNDED AND COMMITTED
Total: $1,014,970

Alan Davidson, PhD, Principal Investigator
Massachusetts General Hospital, Boston, Massachusetts
“Characterization and Rescue of CTNS-iPS Cells”
$129,557 – 1-year grant

Bruno Gasnier, PhD, Principal Investigator
Institut de Biologie Physico-Chimique, Paris, France
Ellen Closs, PhD, Co-Investigator
University Medical Center, Mainz, Germany
“Molecular Study of Lysosomal Transporters Involved in the Cystine-depleting Effect of Cysteamine”
$169,384 – 2-year grant

Patrick Harrison, PhD, Mentor and Ciaran Lee, Research Fellow
University College Cork, Ireland
“Cystinosis Gene Repair”
$146,258 – 2-year grant

Elena Levtchenko, MD, PhD, Principal Investigator
University Hospital Leuven, Belgium
“Studying Podocyte Function in Nephropathic Cystinosis”
$150,000 – 2-year grant

David Pearce, PhD, Principal Investigator
University of Rochester Medical Center, Rochester, New York
"Yeast Model for Cystinosis"
$26,211 - Six month grant

Miriam Britt Sach, MD, PhD, Principal Investigator
University of California, San Diego
“In Vivo ATP Metabolism in Cystinosis Patients as Assessed by MR Spectroscopy”
$109,493 – 1-year grant

Jennifer Simpson, MD, Principal Investigator
James Jester, PhD, Co-Investigator
University of California, Irvine
“Novel Treatment Modalities for Corneal Cystinosis”
$180,000 – 2-year grant

Mary Taub, PhD, Principal Investigator
State University of New York at Buffalo
“Mechanisms Underlying the Fanconi Syndrome in Cystinosis”
$104,067 – 1-year grant

2009 RESEARCH STUDIES
FUNDED AND COMMITTED $3,331,496

SPRING

Corinne Antignac M.D., Ph.D, Mentor, and Zuzanna Andrzejewska, Research Fellow
Hospital Necker, Paris, France
“Role of Cystinosis in Trafficking and Membrane Fusion”
$126,000 – 3-year study

Stephanie Cherqui, Ph.D
The Scripps Research Institute, La Jolla, California
“Stem and Gene Therapy for Cystinosis”
$750,691 – 2-year study

Alan J. Davidson, Ph.D.
Joseph P. Vacanti, M.D.
Harvard Medical School/ Mass. General
“Developing New Models of Cystinosis: Zebrafish and iPS Cells”
$75,000 – 1-year study

Ranjan Dohil, M.D., and Betty Cabrera, B.S., MPH
University of California at San Diego
“Various Cystinosis Research Projects”
$228,648 – 3-year study

Miriam Sach, M.D., Ph.D
University of California, San Diego
“Neural Correlates of Executive Functioning in Cystinosis; a Structural MRI Study”
$65,725 – 1-year study

Mary L. Taub, Ph.D
State University of New York at Buffalo
“Mechanisms Underlying the Fanconi Syndrome in Cystinosis”
$103,437 – 1-year study

Doris Trauner, M.D.
University of California, San Diego
“Psychological Functioning in Cystinosis: Stress and Coping with Chronic Illness”
$66,624 – 1-year study

Kang Zhang, M.D.
University of California, San Diego
“Eye Targeted Gene Therapy for Cystinosis in the Eye”
$321,346 – 2-year study

AUTUMN

Bruce Barshop, M.D., Ph.D., Principal Investigator
University of California, San Diego
“Improvement of Intracellular Cystine Measurement”
$62,930 – 1-year study

Bruce Barshop, M.D., Ph.D.
University of California, San Diego
“Tandem Mass Spectrometer Support”
$160,604 – 1.5-years

Bruce Barshop, M.D., Ph.D., Mentor,
Ilya Gertsman, Ph.D., Research Fellow
University of California, San Diego
“Proteomic Based Identification of Cysteinylated Proteins in Cystinotic Cells”
$124,214 – 2-year fellowship

Stephanie Cherqui, Ph.D., Principal Investigator
The Scripps Research Institute, La Jolla, California
“Stem Cell and Gene Therapy for Cystinosis”
$163,340 – 2-year study

Stephanie Cherqui, Ph.D., Mentor,
Brian Yeagy, Ph.D., Research Fellow
The Scripps Research Institute, La Jolla, California
“Stem Cell and Gene Therapy for Cystinosis”
$138,485 – 2-year fellowship

Pierre J. Courtoy, M.D., Ph.D., Principal Investigator
de Duve Institute, Brussels, Belgium
“Lessons from Cystinotic Mice: Vital Imaging of Protein Handling and Lysosomal Function, Reciprocal Interactions with Regulatory Kinases, and Regeneration Potential by Transdifferentiation”
$236,000 – 2-year study

Ranjan Dohil, M.D., Principal Investigator
University of California, San Diego
“A Study to Evaluate Enteric-Coated Cysteamine Therapy in Patients with Cystinosis”
$27,226 – 1-year study

Paul Goodyer, M.D., Principal Investigator
Montreal Children’s Hospital, Quebec, Canada
Francesco Emma, M.D., Co-Investigator
Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
“Stem Cell Microvesicles Rescue Cystinosis in Vitro”
$308,602 – 2-year study

Elena Levtchenko, M.D., Ph.D., Principal Investigator
University Hospital Leuven, Belgium
Roos Masereeuw, Ph.D., and Lambertus van den Huevel, Ph.D., Co-Investigators
Radboud University, Nijmegen, The Netherlands
“Role of P-glycoprotein Expression and Function in Cystinotic Proximal Tubular Cells”
$83,999 – 1-year study

Robert Mak, M.D., Ph.D., Principal Investigator
University of California, San Diego
“Energy Homeostasis and Muscle Wasting in Nephropathic Cystinosis”
$150,000 – 2-year study

Holger Willenbring, M.D., Ph.D., Principal Investigator
University of California, San Francisco
“Pluripotent Stem Cells as a Source of Immunocompatible Renal Progenitor Cells for Therapy of Nephropathic Cystinosis”
$138,625 – 1-year study

2008 RESEARCH STUDIES
FUNDED AND COMMITTED $1,741,889

SPRING

Corinne Antignac M.D., Ph.D.
Hospital Necker, Paris, France
“Characterization of the Interaction of Cystinosin with Galectin-3 and Vacuolar H+ - ATPase”
$230,000 – 2-year study

Stephanie Cherqui, Ph.D.
Daniel Saloman, M.D.
The Scripps Research Institute, La Jolla, California
“Treatment of Cystinosis Nephropathy Using Ureteral Injection of Adeno-associated Virus Expressing CTNS”
$249,128 - 1-year study

Francesco Emma, M.D.
Anna Taranta, Ph.D.
Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
“Identification and Analysis of Cis- and Trans-acting Elements that Activate the CTNS Gene”
$125,140 - 2-year study

Bruno Gasnier, Ph.D., Mentor
Xiong Chen, Ph.D., Research Fellow
Institut de Biologie Physico-Chimique, Paris, France
“Molecular Anatomy and Physiology of Human Cystinosin”
$223,200 – 3-year study

Vasiliki Kalatzis, Ph.D.
Eric J. Kremer, Ph.D.
Institut Génétique Moléculaire Montpellier, Montpellier, France
“Gene Transfer Studies for Cystinosis”
$66,900 - 1-year study

Vasiliki Kalatzis, Ph.D., Mentor
Claire Hippert, Research Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
"Gene Transfer Studies for Cystinosis"
$63,300 - 1-year study

Elena Levtchenko, M.D., Ph.D., Lambertus van den Heuvel, Ph.D., Francesco Emma, M.D., Mentors
Martijn Wilmer, Research Fellow
University Hospital Leuven, Belgium
“Pathogenesis of Renal Disease in Nephropathic Cystinosis”
$165,000 - 2-year study

Jennifer Simpson, M.D.
James Jester Ph.D.
University of California, Irvine
“Evaluation of Novel Corneal Imaging and Therapeutics in the CTNS Knockout (Cystinosis) Mouse Model”
$89,399 - 2-year study

Mary L. Taub, Ph.D.
State University of New York at Buffalo
“Mechanisms Underlying the Fanconi Syndrome in Cystinosis”
$104,294 - 1-year study

AUTUMN

Betty Cabrera, BS, MPH
University of California at San Diego
"Bench and Clinical Research Assistant"
$111,045 - 3-years

Elena Levtchenko, MD, PhD
University Hospital Leuven, Belgium
"Unraveling the Mechanisms of Cysteamine Toxicity in Patients with Cystinosis"
$150,000 - 2-year study

Minnie M. Sarwal, MD
Renee A. Reijo Pera, PhD
Stanford University School of Medicine
"Characterization of Novel Lysosomal Genes for Immune Regulation and Spermatogenesis in Nephropathic Cystinosis"
$164,483 - 1-year study

2007 RESEARCH STUDIES FUNDED AND COMMITTED $2,615,592

January 2007

Rita Ceponiene, M.D., Ph.D.
University of California, San Diego
“Neural Functioning in Auditory and Visual Systems in Cystinosis: Linking Brain to Behavior”
$287,918 – 2-year study

Francesco Emma, M.D.
Anna Taranta, Ph.D.
Elena Levtchenko, M.D., Ph.D.
Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy and Radboud University Medical Centre Nijmegen, The Netherlands
“Transcriptional and Post-Transcriptional Regulation of the CTNS Gene”
$138,824 – 2-year study

Vasiliki Kalatzis, Ph.D., Mentor
Claire Hippert, Research Fellow
Institut Génétique Moléculaire Montpellier, Montpellier, France
“Gene Transfer Studies for Cystinosis”
$168,290 – 2-year study

Holger Willenbring, M.D., Mentor
Silvia Espejel Carbajal, Ph.D., Research Fellow
University of California, San Francisco
“Targeted Cell Fusion for the Correction of Tubulopathy Due to Cystinosis”
$84,530 – 2-year study

March 2007

Taosheng Huang, M.D., Ph.D.
University of California, Irvine
“Study on Mitochondrial function in Cystinosis”
$50,000 – Pilot research

Robert Ballotti Ph.D.
Christine Chiaverini, M.D., Ph.D.
EPCC
Faculte’ de Medecine, Nice France
“Molecular Mechanisms of Hypopigmentation in Cystinosis”
$125,000 – 2-year study

July 2007

Corinne Antignac, M.D., Ph.D.
Hospital Necker, Paris, France
“Characterization of Cystinosin Intracellular Trafficking”
$85,000 – 1-year study

Bruce Barshop, M.D., Ph.D .
Jerry Schneider, M.D.
University of California, San Diego
“Practical Aspects of Intracellular Cystine Measurements”
$109,886 – 1-year study

Ranjan Dohil, M.D.
University of California, San Diego
“One Year Treatment Study of Enteric-Coated Cysteamine in Patients with Cystinosis”
$99,688 – 1-year study

Bruno Gasnier, Ph.D.
Institut de Biologie Physico-Chimique, Paris, France
“Identification and Characterization of the Lysosomal Transporter Involved in Cysteamine-Medicated Cystine Efflux”
$243,000 – 2-year study

Taosheng Huang, M.D., Ph.D., Mentor
Sha Tang, Ph.D., Research Fellow
University of California, Irvine
“Molecular and Pathogenesis Study of Cystinosis”
$106,180 – 2-year fellowship

September 2007

Corinne Antignac, M.D., Ph.D.
Hospital Necker, Paris, France
“Purchase of Centrifuge and Rotor”
$46,550 – Award Total

Meredith Fidler, Ph.D.
University of California, San Diego
“Associate Project Scientist for various cystinosis studies”
$79,729.10 – 1-year research support

December 2007

Eric Moses, Ph.D.
John Blangero, Ph.D.
Southwest Foundation for Biomedical Research, San Antonio, Texas
“Scanning The Human Transcriptome In Cystinotic Cell Lines For Changes That Are Associated With Genetic Variation In The CTNS Gene”
$183,470 – 2-year study

Bruce Barshop, M.D., Ph.D.
Jerry Schneider, M.D.
University of California, San Diego, California
“UCSD Tandem Mass Spectrometry Cystine Determination Resource”
$118,845 – 1-year study

David Pearce, Ph.D.
Seasson Phillips Vitiello, Ph.D. Research Fellow
University of Rochester Medical Center, Rochester, New York
“Yeast Model for Cystinosis”
$173,474 – 3-year study

Holger Willenbring, M.D.
John McLaughlin, Ph.D.
University of California, San Francisco, California
“Parthenogenetic Embryonic Stem Cells As A Source Of Immunocompatible Renal Progenitor Cells For Therapy Of Nephropathic Cystinosis”
$248,000 – 2-year study

Allison Eddy, M.D.
Daryl Okamura, M.D.
Seattle Children’s Hospital Research Institute, Seattle Washington
“Cysteamine Effects On Extracellular Matrix Accumulation In Chronic Kidney Disease”
$267,208 – 3 -ear study

2006 RESEARCH STUDIES FUNDED AND COMMITTED: $1,634,400

February 2006

Ranjan Dohil, M.D.
University of California, San Diego
“A Study to Evaluate Enteric-Coated Cysteamine Therapy in Patients with Cystinosis”
$253,685 – 1-year clinical study

May 2006

Corinne Antignac, M.D., Ph.D.
Hospital Necker, Paris, France
“Characterization of Cystinosin Intracellular Trafficking”
$85,000 – 1-year study

Angela Ballantyne, Ph.D., and Amy Spilkin, Ph.D.
University of California, San Diego
“Academic Functioning in Cystinosis: A Comprehensive Study of the Process of Achievement”
$213,527 – 2-year study

Bruce Barshop, M.D., Ph.D. and Jerry Schneider, M.D.
University of California, San Diego
“API-4000 Tandem Mass Spectrometer for Cystinosis Research”
$118,400 – 2-year lease and maintenance

Elena Levtchenko, M.D., Ph.D.
University Medical Centre
St. Radboud Nijmegen, The Netherlands
“Pathogenesis of Interstitial Renal Damage Leading to Renal Failure in Cystinosis”
$72,423 – 1-year study

Daniel Salomon, M.D. and Stephanie Cherqui, Ph.D.
The Scripps Research Institute, La Jolla, California
“Treatment of Cystinosis Nephropathy Using Genetically Modified Adult Stem Cells in Murine Cystinosis Model”
$709,170 – 3-year study

December 2006

Eric K. Moses, Ph.D., Mentor
Katy Freed, Ph.D., Research Fellow
Southwest Foundation for Biomedical Research, San Antonio, Texas
“Complex Genetic Approaches to Monogenic Disease: Genomic and Transcriptomic Dissection of Normal Expression of CTNS, the Gene Involved in Nephropathic Cystinosis"
$148,535 – 2-year study

Jess G. Thoene, M.D.
The University of Michigan
“Lysosomal Cystine Enhanced Apoptosis in Cultured Human Mesenchymal Stem Cells”
$33,660 – Laboratory supplies

*Jess G. Thoene, M.D. (Reinstated after Hurricane Katrina)
The University of Michigan
“Lysosomal Cystine Enhanced Apoptosis in Cultured Human Mesenchymal Stem Cells”
$150,000 – 18 month study

* Dr. Thoene’s study was originally approved for funding in 2005 but because his lab at Tulane University was destroyed by Hurricane Katrina, the study was cancelled. In November, 2006 Dr. Thoene’s study was reinstated at the University of Michigan.

2005 RESEARCH STUDIES FUNDED

Corinne Antignac, M.D., Ph.D.
Hospital Necker - Enfants Malades
"Characterizations of Cystinosin Intracellular Trafficking"
$78,000 - 1-year study

Ranjan Dohil, M.D.
University of California, San Diego
"Clinical Studies of Cystinosis: Attempts to Improve Treatment"
$200,000 - 2-year study

Jess G. Thoene, M.D. (On hold due to hurricane Katrina, research lab destroyed)
Tulane University, School of Medicine
"Lysosomal Cystine Enhanced Apoptosis in Cultured Human Mesenchymal Stem Cells"
$200,000 - 2-year study

Amy Spilkin, Ph.D.
University of California, San Diego
"A Study of the Cognitive Domain of Executive Functioning in Individuals with Cystinosis"
$167,865 - 2-year study

September 2005

Dzong Nguyen, Ph.D.
University of California, San Diego
"Development of a Rapid Method of Neutrophil/Monocyte Isolation of the Diagnosis and Monitoring of Cystinosis"
$127,121 - 2-year study

2004 RESEARCH STUDIES FUNDED

Ranjan Dohil, M.D.
Associate Clinical Professor
Division of Pediatric Gastroenterology and Hepatology
University ofCalifornia,San DiegoLa Jolla, CA

Dr. Dohil was awarded a two year grant by the CRF to study the absorption of cysteamine in the intestinal system. The study is currently winding down. To date, nine control patients and six children with cystinosis have completed the study with no adverse events. The study is going well and the results to date are very promising. The data indicates that the cysteamine is absorbed primarily in the small intestine. With the data collected, the hope is to create a new way of delivering the drug thereby reducing the frequency of taking the medication as well as diminishing the adverse effects of the current medication.

Doris Trauner, M.D.
Professor, Departments of Neurosciences and Pediatrics
Chief, Pediatric Neurology
UCSDSchool of Medicine
La Jolla, CA

Dr. Trauner was awarded a two year grant by the CRF to study myopathy (muscle wasting) in young adults with Cystinosis. Dr. Trauner is hoping to understand why muscle wasting occurs and then determine a treatment regimen that will improve the strength and prevent deterioration in muscle strength. Dr. Trauner initially had difficulty recruiting patients for the study because of concern about the muscle biopsy and about the time required to participate inSan Diego. Dr. Trauner has modified the time required. She currently has nine patients who have volunteered for the study.

Tom Jeitner, Ph.D.
Research Assistant Professor
Department of Biochemistry
Medical College of Wisconsin
Milwaukee,Wisconsin

Dr. Jeitner was awarded a two-year grant to study cysteamine and its analogs to determine whether there are better methods of treatment and drug delivery for Cystinosis patients. Cysteamine is currently being studied as a treatment for Parkinson’s disease and Huntington’s disease.

He has dedicated the majority of his career on the biochemical pharmacology of cysteamine and its analogs. The emphasis of his study is on developing better therapeutics based on the chemical properties of cysteamine. Within the last several months he has identified two parameters for inclusion in the pharmacokinetics study that is aimed at investigating the conversion of cystamine to cysteamine. In the course of this study, he tested a simple compound previously not considered, as a therapeutic for Cystinosis. The result was that the simple compound protected the kidney from deleterious effects of other compounds. This particular finding is being prepared for publication and although not part of the original proposal, is an example of how experiments in one area can lead to the development of better therapies and ideas.

Jess Thoene, M.D.
Director, HaywardGeneticsCenter
Karen Gore Professor of Pediatrics
TulaneUniversity, School ofMedicine
New Orleans, LA

Dr. Thoene has been awarded a one year grant by the CRF to study how lysosomal cystine causes enhanced apoptosis (early programmed cell death). When Dr. Thoene studied apoptosis in cultured Cystinosis skin cells, he found that the presence of lysosomal cystine increases the proportion of cells entering apoptosis by two hundred percent. Over time, this inappropriate commitment to cell death can reduce the number of remaining cells leading to generalized hypocellularity, and the short stature, failure to thrive and most importantly, the kidney disease seen in nephropathic Cystinosis. Dr. Thoene hopes to obtain a better understanding of why apoptosis occurs in patients with Cystinosis.