ACTX-401

ACTX-401 is an investigational AAV9-delivered gene replacement therapy being developed by Alcyone Therapeutics for IGHMBP2-related disorders, including spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot–Marie–Tooth disease type 2S (CMT2S).[1][7][9] It uses a recombinant adeno-associated virus serotype 9 (AAV9) vector to deliver a functional copy of the human immunoglobulin mu-binding protein 2 (IGHMBP2) cDNA to the central nervous system via intrathecal administration, aiming to restore IGHMBP2 expression and thereby improve motor, respiratory, and neuromuscular function in affected patients.[1][3][7][9] Preclinical studies in multiple mouse models of IGHMBP2-related disease demonstrated dose-dependent improvements in behavioral and physiological endpoints and favorable safety, which supported initiation of an open-label Phase 1/2 intrathecal trial in patients with SMARD1 and related IGHMBP2 disorders.[7][9][11]

Other names

AAV9-IGHMBP2AAV-9-IGHMBP2AAV 9-IGHMBP2