The US Food and Drug Administration has approved the first-ever treatment for Menkes disease, a rare and usually fatal genetic disorder that primarily affects infants and young children. This marks a major milestone for patients and families who until now had no approved therapy. 

Sentynl Therapeutics, a U.S.-based biopharmaceutical company wholly owned by Zydus Lifesciences Limited, which announced that the FDA has cleared ZYCUBO (copper histidinate) for the treatment of pediatric patients with Menkes disease. The drug is the first and only FDA-approved therapy for the condition in the United States. It is not indicated for Occipital Horn Syndrome. 

“Approval is a pivotal step towards achieving our goal of making a meaningful impact on patients, caregivers, and the rare disease community,” said Dr. Sharvil P. Patel, Managing Director, Zydus Lifesciences Limited.  

“This milestone marks a transformative moment for the Zydus Group and for families affected by Menkes disease. For the first time, patients have access to an approved therapy, offering hope where no options existed. We are proud to advance patient care and deliver innovative solutions to those who need them most.” 

Menkes disease is a rare X-linked recessive disorder caused by mutations in the ATP7A gene, which disrupt copper absorption and transport to the brain. Infants are born unable to properly utilize dietary copper, leading to severe neurological deterioration. Without treatment, most patients do not survive past early childhood. 

“Menkes disease presents significant challenges for patients and their families. With no known cure, most untreated patients do not survive beyond three years of age,” said Matt Heck, CEO, Sentynl. “FDA’s approval serves as compelling affirmation that a safe and effective therapy is now available for patients living with this devastating disease.” 

ZYCUBO is a subcutaneous injectable formulation of copper histidinate designed to restore copper balance and maintain copper levels in affected patients. Until now, there had been no FDA-approved treatment option available in the United States. 

The approval is backed by positive topline clinical efficacy data showing a statistically significant survival benefit for patients who received early treatment with ZYCUBO.  

According to prescribing information, early-treated patients experienced a nearly 80% reduction in the risk of death compared to an untreated contemporaneous external control cohort. Median overall survival was 177.1 months in the treated group, compared with 17.6 months in untreated patients. 

“This milestone represents the culmination of decades of research into better understanding and ultimately finding an effective treatment for Menkes disease,” said Dr. Stephen Kaler, a clinical genetics and genomics specialist at Columbia University Medical Center.  

“Increased awareness of Menkes disease and rapid testing upon suspicion are critical, as beginning copper histidinate therapy in affected neonates has been shown to reduce symptoms and prolong life.”