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Back You are here: Inicio Biology & biomedicine Projects A project aimed at developing a tool for the diagnosis and monitoring of cystinosis

A project aimed at developing a tool for the diagnosis and monitoring of cystinosis

The Institute for Advanced Chemistry of Catalonia (IQAC) of the CSIC leads a project aimed at developing a tool for the diagnosis and monitoring of cystinosis, a rare disease. The tool could reduce the time that patients, especially children, have to spend at the hospital. The project has received a grant from the AGAUR agency and from the European ERDF funds.

The proposed clinical test will detect and quantify cystine in granulocytes isolated from blood samples, through a cheaper, faster and simpler analytical tool. Image: Pixabay.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. But, like any other chronic disease, it is required a permanent control and to follow up the intracellular Cys2 levels for adjusting the treatment. Unfortunately, current available analytical methods 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

The Supramolecular Chemistry group from the Institute for Advanced Chemistry of Catalonia (IQAC) belonging to the Spanish National Research Council (CSIC) has launched a project to develop a tool for the diagnosis and monitoring of cystinosis.

The project, led by Dr. Ignacio Alfonso, is aimed at developing an easy-to-perform, fast and non-expensive test for measuring intracellular Cys2.

The project is aimed at developing 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 that can go from several hours to the whole day sometimes.

Additionally, another of the advantages would be the cost reduction per sample, making it accessible for small hospitals and walk in clinics. These characteristics would make this method especially interesting for being used in poorer countries or in geographically isolated areas.

This project has received an AGAUR grant, in the 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.