A cure for cystinosis can only be found through a highly cooperative approach that involves those afflicted by the disease, their families, and the medical community. A major focus of the Cystinosis Research Network continues to be a determined effort to secure a promising future for the cystinosis community through the support and funding of research grants that lead to improved treatments and ultimately a cure for cystinosis. CRN has a current research commitment of over $600,000.00 and has funded over $5 million in research grants and fellowships. Following are updates on CRN funded research projects.
May 2022
IMPACT – Improvement of Motoric Abilities in Patients with Cystinosis
Katharina Hohenfellner, MD, PhD
January 2022
High-level Update – Cognitive Control Systems in Cystinosis
Principal Investigators: John Foxe, PhD and Sophie Molholm, PhD
April 2020
Final Progress Report – Year 03 Mechanisms Underlying Neurocognitive Changes in Cystinosis
Principal Investigators: John Foxe, PhD and Sophie Molholm, PhD
OCTOBER 2018
Study of Neuronal Structure and Function Changes in Cystinosis
Principal Investigators: John Foxe, PhD and Krishnan Padmanabhan, PhD
APRIL 2017
Laymen’s Summary: Altered Protein Kinase Signalling as a Cause of Reduced Adhesion and Increased Motility of Renal Epithelial Cells in Cystinosis
Principal Investigator: Dr. Elena Levtchenko
OCT 2016
Research Grant Updates Fall 2016
JAN 2013
Final Report: Functional Characterization of Cystinosin-LKG
Principal Investigator: Francesco Emma, MD, Co-investigator: Anna Taranta, Ph.D.
Progress Report: Genotype-Phenotype in Egyptian Patients with Nephropathic Cystinosis
by Dr. Neveen Soliman and Dr. Elena Levtchenko
Progress Report: A proteomic investigation of cystinotic cells and the effects of cysteamine treatment.
Jill Jobson, Noel Carter, Ken McGarry, Achim Treumann‡ and Roz Anderson Faculty of Applied Science, School of Pharmacy, University of Sunderland, UK ‡ University of Newcastle Upon Tyne, Newcastle, UK
Progress Report: Study of skin changes in cystinosis patients under cysteamine therapy
Fellow: Martine Besouw, MD, Mentors: Elena Levtchenko, MD, PhD, Lambertus vanden Heuvel, PhD
MAY 2012
Newborn Screening Research
Elevated concentrations of seduheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnosis and neonatal screening
FEB 2011
The Living with Cystinosis Survey Results
OCT 2010
Cystinosis Patients Survey Results: Survey Sheds Light on the Needs of Cystinosis Patients
SEPT 2010
Professional Paper and Final Report: The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies
Christopher Larsen, Patrick Walker, and Jess Thoene
AUG 2010
15th Congress of the International Pediatric Nephrology Association The Cystinosis Research Network Symposium
The Cystinosis Research Network Symposium – Official Program
JULY 2010
2nd Progress Report: Functional Characterization of Cystinosin- LK
Francesco Emma, M.D. and Anna Taranta, Ph.D.
NOV 2009
Final Report: Gene Transfer Studies for Cystinosis
Vasiliki Kalatzis, MD
AUG 2009
6-month Progress Report: Functional Characterization of Cystinosin- LK
Francesco Emma, M.D. and Anna Taranta, Ph.D.
JUNE 2009
CRN 18-mo progress update – Gene transfer studies for Cystinosis
Vasiliki Kalatzis, M.D.
FEB 2009
Final Report: Study of ATP metabolism in human cystinotic proximal tubular cells and in humans with cystinosis in vivo
E. Levtchenko, M.D., PhD; M. Wilmer, PhD student
FEB 2009
Final Report: Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis
Dr. Rachel Knott, Dr. Graeme Kay and Professor Donald Cairn, M.D.
DEC 2008
Final Report: Design and Synthesis of Novel Prodrugs for the Treatment of Cystinosis
Donald Cairn, M.D.
DEC 2008
Final Report: Early Intervention Trial for Visual Processing Deficit in Cystinosis
Doris A. Trauner M.D.
NOV 2008
CRN 12 Month Progress Update – Gene Transfer Studies for Cystinosis
Viki Kalatzis, PhD, and Eric J. Kremer, PhD
AUG 2008
Publication: Gene Transfer May be Preventative But Not Curative for a Lysosomal Transport Disorder
The American Society of Gene Therapy | Partially funded by CRN
AUG 2008
1 year progress report: Development of a Cysteamine in Situ Gelling System for the Treatment of Corneal Crystals in Cystinosis
Bolanle Lawal
AUG 2008
Final Report: Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis
Dr Rachel Knott, Dr Graeme Kay and Professor Donald Cairn
AUG 2008
6 month Progress update: Study of ATP Metabolism in Human Cystinotic Proximal Tubular Cells and in Humans with Cystinosis in Vivo
Report: E. Levtchenko, MD, PhD
MAR 2008
Publication: A Potential New Pro-Drug for the Treatment of Cystinosis: Design, Synthesis and in-Vitro evaluation
Bridgeen McCaughan, et. al.
MAR 2008
Publication: Cystine Accumulation in the CNS Results in Severe Age-Related Memory Deficits
Maurice, et. al.