AAV-COLQ gene therapy

AAV-COLQ gene therapy is an adeno-associated virus (AAV)-based gene replacement therapy designed to treat congenital myasthenic syndrome (CMS) caused by mutations in the COLQ gene. The therapy utilizes an AAV vector (such as AAV8, AAV9, or AAVrh74) to deliver a functional human COLQ transgene to muscle cells. The COLQ gene encodes the collagen-like tail subunit of asymmetric acetylcholinesterase (AChE), which is essential for anchoring AChE within the synaptic cleft of the neuromuscular junction (NMJ). In patients with COLQ deficiency, the absence of anchored AChE leads to prolonged acetylcholine activity and subsequent neuromuscular transmission failure. By restoring ColQ expression, this therapy aims to stabilize AChE at the NMJ, thereby normalizing synaptic signaling and improving muscle strength and motor function. It is currently being developed by Amplo Biotechnology (as AMP-201) and the National Center for Advancing Translational Science (NCATS) as part of the Platform Vector Gene Therapy (PaVe-GT) program.

Other names

AAV-COLQAAV8-COLQAAV-8-COLQAAV 8-COLQAAV9-COLQAAV-9-COLQAAV 9-COLQAAVrh74-COLQAAVrh-74-COLQAAVrh 74-COLQ