A natural compound designated as an orphan drug for cystinuria

A natural compound with antioxidant properties, L-ergothioneine, has been designated as an orphan drug for cystinuria treatment by the European Medicines Agency (EMA). Studies in a murine model of this rare disease have shown that L-ergothioneine could prevent the formation of cystine stones in the kidney and urinary tract, characteristic of this pathology, or delay its appearance.

This orphan drug, promoted by the Center for Biomedical Network Research on Rare Diseases (CIBERER), has been developed by a team from this center, the Bellvitge Institute of Biomedical Research (IDIBELL) and the University of Barcelona (UB). The research was co-led by Virginia Nunes, researcher at IDIBELL and professor in the Department of Physiological Sciences of the UB and by the CIBERER researcher Miguel López de Heredia.

Cystinuria is a hereditary genetic disease that affects 1 in 7,000 newborns. It is characterized by the recurrent appearance of cystine stones in the urinary tract and kidney, which causes a deterioration in their quality of life.

Current preventive treatments are complex, ineffective, and have adverse effects, which cause that many patients abandon them. Therefore, they need to undergo frequent surgical procedures to remove the stones.

L-ergothioneine is a natural compound with antioxidant properties identified 100 years ago that, unlike current treatments against the disease, shows low toxicity, which could allow the chronic treatment of patients with cystinuria. In the murine models used by the researchers, the administration of this compound has reduced stone formation safely and effectively.

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