The Supramolecular Chemistry group from the Institute for Advanced Chemistry of Catalonia (IQAC) belonging to the Spanish National Research Council (CSIC) has been awarded with a project led by Dr. Ignacio Alfonso, to develop a diagnostic and monitoring tool for cystinosis.

Cystinosis is a metabolic disease characterized by the accumulation of crystals of cysteine (Cys2) –the oxidized dimeric form of the amino acid cysteine (Cys)-, inside the lysosomes of different organs and tissues. This is an inherited genetic disease caused by a mutation of the corresponding Cys transporting protein, which leads to an inefficient efflux of the amino acid.

The long-term accumulation of Cys2 can produce irreversible damages in different organs, mainly kidney, but also brain, cornea, lungs, liver, heart, etc., leading to serious health problems. Thus, an early diagnosis is fundamental for a better prognosis of the disease.

Cystinosis is one of those diseases classified as ‘Rare Diseases (RD)’ whose prevalence is estimated from 1/100.000 to 1/200.000. Despite this disease has no cure, the treatment with cysteamine improves the patients’ quality of life, even though as for any type of chronic disease, the follow up of the intracellular Cys2 levels for adjustment of the treatment is essential.

Unfortunately, the available analytical methods to date are based on highly complex methodologies which require tedious and elaborated pre-treatment of the blood sample to be analyzed. Accordingly, that makes the full test highly expensive and time-demanding.


New analytical tool for diagnosing the disease

Dr. Alfonso’s team proposes the development of an easy-to-perform, fast and non-expensive test for measuring intracellular Cys2. “The proposal aims to carry out an evolution of the method developed and patented by our group in 2018, which selectively detects Cys and Cys2 in human urine, using a simple protocol and in just one hour”, explains Alfonso.

In this project, they propose to set up and validate this method for blood samples, using the advice and the supply of samples from real patients from Hospital Vall d’Hebron in Catalonia. 

The clinical validation of this test, would render a faster method for the diagnostic and monitoring of this disease. “It would be useful in the follow-up of the Cys2 levels in patients undergoing treatment to adjust the cysteamine dose”, explains Dr. Alfonso. “This would highly reduce the time that sick children have to spend at the hospital”, concludes Alfonso.

Additionally, another of the most highlighted advantages would be the cost reduction per sample, making it accessible for small hospitals and walk in clinics. These characteristics, would make this method specially interesting also for using in underdeveloped countries or in geographically isolated areas.

This project has received an AGAUR grant, modality ‘Producte Grants for the obtaining of prototypes and the valorization and transfer of the results of the research created by research teams in Catalonia’. This grant is co-funded by the European Union through the European Regional Development Fund (ERDF) from Catalonia 2014-2020.


The figure represents the proposed clinical test for the diagnosis and follow up of cystinosis disease. This selective sensing system will detect and quantify cystine in granulocytes isolated from blood samples, through a cheaper, faster and simpler analytical tool.


IQAC Communication


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