Investigating the potential of CTNS-mRNA loaded nanoparticles as a new therapeutic strategy for nephropathic cystinosis.

Cystinosis is a rare disease that results in the build-up of cystine in all cells of the body. Cystine is a building block of proteins and normally the excess is moved out of cells. In cystinosis, the transporter for cystine is deficient and cystine builds up inside cells. It forms crystals which cause damage and eventually deterioration of all organs and muscles. The kidneys, in particular, are severely damaged. The current treatment for cystinosis, cysteamine, postpones but does not prevent this kidney failure. Therefore, new and more effective treatments are currently being investigated [1]. 

The aim of this study is to give cells the possibility to make transporters of cystine, allowing cystine to exit the cells normally. This would cure or prevent the disease progressing. To instruct cells, we will use messenger RNA (mRNA). mRNA is not gene therapy but a transient carrier of the genetic blueprint. Recent clinical trials have shown the potential of mRNA for genetic diseases such as cystic fibrosis [2, 3]. Similar technology has been used in development of the SARS-CoV2 vaccines. To use this type of technology several aspects need to be addressed. Firstly, the mRNA itself must be adjusted so that it can work effectively in the patients’ cells and not cause an immune response. Secondly, the mRNA needs to be carried in a delivery vehicle that will protect it from being broken down in the patient’s body and to direct the mRNA to the correct part of the body.

We will test the mRNA technology in two cell models of cystinosis and evaluate how well it works at preventing disease. Afterwards, we will test it in a cystinosis rat model, where we will evaluate how effective it is at preventing damage to the kidneys and other organs.

Award Date
01 July 2022
Award Value
Principal Investigator
Professor Elena Levtchenko
Host Institution
University Hospitals Leuven & KU Leuven
HRCI-HRB Joint Funding Scheme