Cystinosis Ireland and Cystinosis Foundation UK (CFUK) join forces to co-fund important research to analyse and explore novel treatment approaches
For the first time Cystinosis Ireland (CI) and Cystinosis Foundation UK (CFUK) have collaborated to jointly fund two important research projects into cystinosis to a total value of €250,000.
The first research project is entitled ‘“Analysis and exploration of novel treatment approaches for muscular disease in cystinosis”, which was awarded to Professor Elena Levtchenko and now is being led by Associate Professor Rik Gijsbers KU Leuven, who has taken over as the Principal Investigator. The research project comprises a combined total investment of €100,000 from Cystinosis Ireland and CFUK (€50,000 each) over the next three years.
The second research project is entitled “Treating ocular cystinosis by contact lenses”, which will be led by Principal Investigator Professor Anuj Chauhan. The research project comprises a combined total investment of €150,000 from Cystinosis Ireland and CFUK (€75,000 each) over the next two years. Full details of the research projects being funded can be found here.
Cystinosis is a very rare inherited genetic disease that causes the build-up of cystine, an amino acid which is normally present in very small amounts in every single cell of a healthy person. The excess cystine forms sharp crystals that damage the body’s cells. Many of the body’s organs are affected by cystinosis including the kidneys and the eyes in particular. In more recent years, muscle weakness has become an increasingly important complication experienced by adult cystinosis patients who are now living into their 20s and beyond. The condition develops even when patients adhere well to the cysteamine drug regimen. The muscle weakness is progressive and has a significant impact on daily life, ranging from being unable to do basic daily tasks (such as opening jars, dressing etc) to serious life threatening difficulties in swallowing and breathing.
In selecting these projects for co-funding, the Boards of Cystinosis Ireland and CFUK agreed that they are scientifically significant and focused on aspects of the condition that extremely relevant and important to the cystinosis community.
Commenting on the funding for this project, Prof Anuj Chauhan said:
We are grateful to Cystinosis Ireland and CFUK for this grant which will be critical in our efforts to develop contact lenses for treating cystinosis. This support is also invaluable because knowing that people who suffer from the disease are excited about our research makes us very passionate to deliver the lenses to the patients. Results from this grant will bring us one step closer to starting the human studies and bringing the product to patients.
Prof Chauhan shared a short video about the funding here.
Speaking about the funding, Prof Elena Levtchenko said:
In our project supported by Cystinosis Ireland and Cystinosis Foundation UK, we aim to explore the mechanism of muscular dysfunction in cystinosis at molecular level using state-of-the-arts technology of CRISPR/Cas9 to knockout the CTNS gene in human myoblasts. We will generate ‘mini-muscles’ to understand how cystinosin deficiency causes muscle disease, and will test novel therapies, including gene therapy, in attempt to restore the sick phenotype.
We are grateful to Cystinosis Ireland and Cystinosis Foundation UK, for supporting our research, and we are excited about the possibility to find ways to treat cystinosis myopathy.
Full details of the research projects being funded can be found here.
