AMT-021

**AMT-021** is an investigational adeno-associated virus serotype 5 (AAV5)-based gene therapy developed by uniQure (formerly Amsterdam Molecular Therapeutics) for the treatment of **acute intermittent porphyria (AIP)**, a rare hepatic disorder caused by mutations in the porphobilinogen deaminase (PBGD) gene leading to deficient heme biosynthesis and accumulation of toxic metabolites. It delivers a functional copy of the human PBGD gene specifically to liver cells to restore enzyme activity, prevent acute porphyric attacks, and ameliorate associated neuropathy and complications. AMT-021 received orphan drug designation from the EMA and entered Phase I clinical trials in December 2012 following preclinical studies demonstrating PBGD normalization and attack prevention in animal models; liver biopsies post-administration showed detectable PBGD DNA with no safety concerns observed.[1][3][7][16]

Other names

recombinant adeno-associated virus 2/5 encoding porphobilinogen deaminase