Congratulations to Dr Jennifer Hollywood and her research colleagues at the University of Auckland in NZ on their recent publication entitled: Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.
Oral cysteamine therapy is the only treatment option for cystinosis patients and despite life-long use patients still require a kidney transplant due to progressive destruction of the proximal tubule segments. The reason for this remains unknown.
The authors developed induced pluripotent stem cell and kidney organoid models of cystinosis that exhibit cystine accumulation, increased apoptosis, enlarged lysosomes and defective basal autophagy.
Cysteamine treatment was unable to rescue the basal autophagy defect however, mTOR inhibition with everolimus was able to restore basal autophagy to levels of healthy controls.
Combination treatment with cysteamine was able to correct all cystinotic symptoms observed suggesting that a dual therapy may be therapeutic to patients with cystinosis and improve outcomes.
This research was partly funded by Cystinosis Ireland.
You can read the full research paper at: Hollywood et al.2020