A natural compound designated as an orphan drug for cystinuria

  • Cystinuria is a rare disease characterized by the formation of cystine stones in the kidney and urinary tract.
  • This compound could prevent or delay the appearance of cystine stones.
  • The orphan drug has been developed by a team from IDIBELL, UB, and CIBERER.
NO67 - Nunes_CIBERER - Imatge Nunes

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 have shown in a murine model of this rare disease that L-ergothioneine could prevent the formation of cystine stones in the kidney and urinary tract characteristic of this pathology or delay its onset.

The research that has made it possible the designation as orphan drug of this molecule has been developed by the research group in Human Molecular Genetics led by Dr. Virginia Nunes, researcher at IDIBELL and the University of Barcelona, together with Dr. Miguel López de Heredia of the Center for Biomedical Research Network on Rare Diseases (CIBERER) from where the petition has been promoted.

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 causes that many patients abandon them. Therefore, they undergo frequent surgical procedures to remove the stones that form.

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.



The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).

Scroll to Top