Safety and efficacy of Copper Histidinate (CUTX-101) treatment for Menkes disease caused by severe loss-of-function variants in ATP7A

Menkes disease (MD) is a X-linked recessive disorder caused by variants in the copper transporter gene, ATP7A. Although MD patients appear asymptomatic at birth, they develop significant neurological signs and symptoms such as seizures, hypotonia, and failure to thrive approximately 6-10 weeks after birth. Death by 3 years of age is the typical outcome in untreated MD. Copper histidinate (CUTX-101) is being investigated for treatment of this illness.