BMN 349

BMN 349 is an orally available small molecule drug under development by BioMarin Pharmaceutical for the treatment of alpha-1 antitrypsin deficiency (AATD), particularly in patients with the PiZZ and PiMZ genotypes. It acts as a protein folding stabilizer and modulator of alpha-1 antitrypsin (AAT), specifically targeting misfolded Z-AAT proteins that accumulate in hepatocytes and cause liver disease. Preclinical studies have shown that BMN 349 reduces liver polymer levels of Z-AAT, decreases endoplasmic reticulum stress markers, and restores liver function in animal models. The drug is currently being evaluated in phase 1 clinical trials to assess its safety, tolerability, pharmacokinetics, and effects on circulating AAT levels following a single oral dose[1][2][3][6].