The US Food and Drug Administration (FDA) has approved the first and only therapy for Menkes disease. 

Zycubo (copper histidinate), developed by US biopharmaceutical company Sentynl Therapeutics, is a subcutaneous injectable formulation given daily to deliver elemental copper to the body.  In a pooled analysis of two open label, single-arm clinical trials, early treatment with Zycubo demonstrated significant improvement in overall survival for Menkes disease patients with a nearly 80% reduction in the risk of death. 

Menkes disease is a rare X-linked recessive paediatric disease caused by mutations of the copper transporter ATP7A encoded by the ATP7A gene. Patients with Menkes disease are born with the inability to absorb dietary copper and subsequently have impaired copper transport across the blood-brain barrier.  

The condition is characterised by distinctive clinical features, including sparse and depigmented hair, connective tissue problems, and severe neurological symptoms such as seizures, hypotonia, failure to thrive, and neurodevelopmental delays. Mortality is high in untreated Menkes disease, with many patients dying between two to three years of age.  

“Menkes disease presents significant challenges for patients and their families,” said Matt Heck, CEO of Sentynl. 

“With no known cure, most untreated patients do not survive beyond three years of age. 

“The FDA’s approval serves as compelling affirmation that a safe and effective therapy is now available for patients living with this devastating disease.” 

Bruno Quinney, Content Team, DDW