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The European FAIR4Health Project ends to promote and facilitate the exchange and responsible use of health data based on the FAIR principles
November 19, 2021- This measure is the result of the research carried out in the European project Interreg Poctefa DBS (EFA176/16), which is coordinated by the University of Zaragoza through the Aragón Engineering Institute and in which the Aragón Health Research Institute participates. the Defense University Center and two French partners
- It is a genetic pathology related to copper metabolism and its defective hepatic transport to tissues.
The Biochemistry laboratory of the Miguel Servet University Hospital in Zaragoza will soon incorporate a new technique, that of exchangeable copper, to diagnose Wilson's disease. It is a genetic pathology related to the metabolism of this chemical element, essential for humans and obtained from the diet, and its defective transport to the tissues, which, when accumulated in the liver, can cause liver and neurological damage. and even the death of the patient. This measure is the result of research carried out by the European project Interreg Poctefa DBS (EFA176/16), the results of which were announced today during the final day of the project, held at the Faculty of Medicine. This initiative has been coordinated by the University of Zaragoza through the Aragon Engineering Research Institute (I3A) and in which the Aragón Health Research Institute (IIS Aragón), the University Defense Center (CUD) and the French partners Angers University Hospital Center and Institute of Analytical and Physicochemical Sciences for the Environment and Materials of Pau (belonging to CNRS).
The person in charge of the Laboratory's Metals Unit, Elena García, highlights that the measurement of exchangeable copper, expressed as a percentage of the total copper concentration, “allows Wilson patients to be more clearly distinguished from other liver pathologies and even , of neonates and infants, which is not always possible with total copper.” This exchangeable copper would represent the fraction of copper not bound to the ceruloplasmin protein. “The analysis is relatively simple: it only requires processing part of the serum sample through a filter that retains all the copper bound to ceruloplasmin,” García continues. “The only additional cost is that of that filter, about 10 euros per unit. Furthermore, it will only be performed on those patients whose total copper results are inconclusive,” she adds.

Accurate and early detection is essential, since, when patients begin to show symptoms, they can be treated with zinc salts in the form of oral capsules and the disease usually follows a very mild course. However, in some cases it is a challenge, since the symptoms are very nonspecific and common to many other more prevalent diseases, so the doctor does not usually suspect Wilson's disease. To rule it out, the measurement of total copper in blood and urine and the protein ceruloplasmin in blood is used, since it is the main molecule that binds copper. These analyzes are simple and cheap, but in a significant percentage the results are inconclusive. In these cases, genetic studies can be performed, which are very expensive, or a liver biopsy can be performed and the accumulated copper quantified, although this is an invasive test that requires hospitalization of the patient and is not free of complications.
For now, the introduction of the exchangeable copper measurement in healthcare practice will be carried out with selected patients. If, as expected, the results are satisfactory, a larger-scale study would be carried out to evaluate its usefulness in neonatal screening for Wilson's disease, since current biomarkers (total copper and ceruloplasmin) cannot be used to discriminate the disease in children under one year of age.
The project has been coordinated by Dr. Martín Resano, from the University of Zaragoza, who positively values that “one of the work areas has resulted in the implementation of new diagnostic tools at the Miguel Servet Hospital and that relationships with "other public and private entities that pave the way for new projects." Also involved are Luis Rello, head of the Clinical Biochemistry service at Miguel Servet, as principal investigator at IIS Aragón, and María Carmen García Poyo as a researcher hired for this project to develop new methods and coordinate the analyzes carried out between the Miguel Servet hospital, the University of Zaragoza and the University of Pau.
Financing
Project co-financed at 65% by the European Regional Development Fund (ERDF) through the Interreg VA Spain-France-Andorra Program.
Title: DBS: Dried blood spots for minimally invasive clinical analysis and early detection of rare diseases (EFA 176/16/DBS)
01/12/2017-30/11/2021