AAV9-ATP7A

AAV9-ATP7A is an investigational gene therapy designed to treat Menkes disease, an X-linked recessive disorder of copper metabolism. The therapy utilizes an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional, codon-optimized copy of the *ATP7A* gene. *ATP7A* encodes a P-type ATPase that is essential for the transport of copper across cell membranes and is critical for normal brain development. In Menkes disease, mutations in this gene lead to systemic copper deficiency and progressive neurodegeneration. AAV9-ATP7A aims to restore copper transport protein expression, particularly across the blood-brain barrier and within the central nervous system. It is often evaluated in clinical settings alongside subcutaneous copper histidinate supplementation to optimize systemic and neurological copper levels.

Other names

Adeno-associated virus serotype 9-ATP7A gene therapyATP7A gene therapyATP-7A gene therapyATP 7A gene therapy