Cyprus leads European search for rare kidney disease treatments

Local healthScienceTop News Cyprus leads European search for rare kidney disease treatments Imgsrc Large Thumbnail Relevant News Cyprus leads European search for rare kidney disease treatments 5 September 2026 Most of Cyprus’s 1,000 gyms are unlicensed, association says 5 September 2026 Hail possible as isolated storms hit Cyprus on Saturday 5 September 2026 Marilena Panayi 5 September 2026 FacebookXWhatsAppEmailPrintViber Cyprus is coordinating a new European research programme, ALP-RARE, aimed at developing treatment options for Alport spectrum disorders, a group of rare inherited kidney diseases. The programme, coordinated by the University of Cyprus’s biobank.cy Center of Excellence in Biobanking and Biomedical Research, will be presented this week at a research symposium in Budapest, placing Cyprus on the map of international scientific research in the field. ALP-RARE secured competitive funding through the European Rare Diseases Research Alliance (ERDERA), with the University of Cyprus coordinating the international consortium, programme coordinator Dr Gregory Papagregoriou told philenews. It is a three-year preclinical research programme. Drug substances and combinations of them will be tested in animal and other experimental models that replicate key features of the human disease, with the aim of gathering reliable data for potential future clinical trials. “ALP-RARE has a particular connection to Cyprus, as it uses experimental models carrying pathogenic variants that occur with increased frequency in Cypriot patients with Alport spectrum disorders, and which have already been developed by researchers at the biobank.cy Center of Excellence,” Papagregoriou said. “At the preclinical stage, we need to establish not only whether a therapeutic approach shows a benefit, but also whether the result is confirmed in different models and by different research teams. Only approaches that gather sufficient and consistent evidence will be able to proceed to further development.” What Alport disorders cause Alport spectrum disorders are linked to genetic variants that affect collagen IV, a material essential for supporting the kidneys’ filters. The damage can allow proteins and red blood cells to pass into the urine and gradually lead to loss of kidney function. Some patients also experience hearing or vision problems. Diagnosis can be difficult, since patients with the same genetic disease do not always show the same symptoms or follow the same course. “The diagnosis of rare diseases is not based on a single symptom or an entirely typical clinical picture. It requires the synthesis of clinical, laboratory and genetic data, as well as comparison of findings with cases recorded internationally,” Papagregoriou said. “Every new diagnosis can expand our knowledge of the disease and help identify patients who would otherwise have remained without a clear diagnosis. The rarity of a disease may simply mean that we have not yet found all the people affected, in order to have more data for a more precise diagnosis.” Cyprus’s genetic footprint Some rare inherited diseases occur with unusually high frequency in specific areas of Cyprus. A characteristic example is MUC1 kidney disease, for which more than 160 people have been recorded with a genetic diagnosis, mainly in the Paphos district. The large concentration of cases does not mean the disease is absent from other countries, but may indicate that it remains underdiagnosed elsewhere. The systematic study of hereditary kidney diseases in Cyprus began in the early 1990s at the Cyprus Institute of Neurology and Genetics, with a decisive contribution from Professor Constantinos Deltas and his colleagues. “In Cyprus, we have been systematically studying hereditary kidney diseases for almost four decades. Continuing the work established by Professor Constantinos Deltas, we aim not only to record their genetic causes, but also to understand in depth the natural course of the disease, the factors that affect its progression, and the ways in which new technologies can improve the diagnosis and monitoring of patients,” Papagregoriou said. A significant advantage is the ability to monitor patients closely and repeatedly, made easier by Cyprus’s small geographic size and the cooperation between researchers and nephrologists. “Our geographic proximity and our cooperation with clinical doctors allow us to maintain close contact with patients with rare kidney diseases and to record the progression of the disease in real time,” he said. “With their consent, patients can be re-examined two or three times a year, providing valuable information on the natural course of the disease and the changes that occur over time.” The importance of genetic diagnosis Genetic analysis is a key tool for diagnosing hereditary kidney diseases. In some cases, it can limit or prevent the need for a biopsy, while it also contributes to a safer evaluation of relatives being considered as potential living kidney donors. “Molecular diagnosis offers nephrologists an important tool for more precisely identifying the cause of a disease, while in transplantation it contributes to a safer evaluation of potential relative donors,” Papagregoriou explained. “Genetic diagnosis does not only tell us about the cause of the disease. Combined with clinical data, it can help us better estimate its likely course, adjust monitoring, and, where there is sufficient evidence, determine the most appropriate therapeutic approach.” Three therapeutic directions The programme is examining three possible therapeutic approaches, each targeting a different mechanism of the disease. 4-PBA is being studied to determine whether it can help collagen IV take on the correct shape and be better positioned in the membrane that supports the kidneys’ filters. Finerenone will be evaluated for its potential action against inflammation and scarring in the kidneys, while specific peptides will be examined for their ability to protect cells from damage. In a previous study, genetically modified mice given 4-PBA showed an improvement in the structure of the kidney filter membrane. Related damage was reduced by about 54 per cent, while fibrosis and scarring in the kidney filters were limited. “We are examining three therapeutic approaches that target different mechanisms of the disease. We will test them both separately and in combination, to see whether they can offer greater benefit when used together,” Papagregoriou explained. “The goal of ALP-RARE is to create a portfolio of promising therapeutic options, supported by strong and reproducible preclinical data. In this way, the most effective approaches will be able to proceed to evaluation by the relevant regulatory authorities and to the design of future clinical trials in humans.” The consortium includes universities, hospitals, research institutions, a biotechnology company and patient organisations. “Meaningful patient participation is now a key element of modern research and is taken seriously by both funding bodies and regulatory authorities,” Papagregoriou noted. “Patients are kept informed of the programme’s progress, ask questions, and help us understand which symptoms and effects of their disease burden them most.” Subscribe to our Newsletter Latest News Most of Cyprus’s 1,000 gyms are unlicensed, association says Hail possible as isolated storms hit Cyprus on Saturday Erato Athanasiou’s cause of death remains unknown after autopsy Culture sector workers call for fair pay as Cyprus spends 0.5% of budget on arts The Jacksons to perform at Monte Caputo, Limassol, in October Israel has just put Greece on the defence-industry map Overnight pharmacies on Friday, September 4 Follow en.philenews on Google News and be the first to know all the news about Cyprus and the world.