Hope emerges for children with rare Menkes disease
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In Málaga, Spain, Aurora Mateo founded Menkes International. Copper Rare Foundation (MICu) after her son, Marco, became the first child in the world to receive an experimental treatment for Menkes disease, a rare genetic condition affecting copper distribution.
Five years ago, doctors began treating Marco with elesclomol-copper, a complex that delivers copper into cells, after trials on mice showed promise.
Mateo then worked to extend access to this treatment through the Named Patient Programme (NPP-Menkes), now assisting children in several countries without cost to families. Mateo is now hosting Marco II, an international scientific conference on September 17 and 18. The conference will bring together 25 experts from 10 countries, alongside families affected by copper-related disorders like Menkes, Wilson’s disease, and Huppke-Brendel syndrome.
Participants will discuss how disruptions in copper metabolism impact health, particularly in childhood, and explore new approaches to treatment. The event aims to connect researchers, clinicians, and families, ensuring that those living with these rare diseases are included in the development of solutions.
Mateo emphasizes the importance of combining scientific research with the lived experiences of patients, believing that collaboration will accelerate progress and “make Menkes history.” A gala will be held on September 18 to raise funds for the NPP-Menkes program.
