PTC Granted Marketing Authorization by European Commission for AADC Deficiency Treatment

PTC Therapeutics, a global biopharmaceutical company, announced on July 20, 2022 that it had been granted a marketing authorization for Upstaza (eladocagene exuparvovec) by the European Commission for treatment of aromatic L-amino acid decarboxylase (AADC) deficiency in patients aged 18 months and older. According to a company press release, Eladocagene exuparvovec is the first approved disease-modifying treatment for AADC deficiency as well as the first marketed gene therapy that is directly infused into the brain.

AADC is a rare, fatal genetic disorder that typically results in severe disability from the first months of life. Eladocagene exuparvovec is a one-time, recombinant adeno-associated virus serotype 2-based gene replacement therapy that contains the human DDC gene. It is designed to correct the underlying genetic defect of AADC by delivering a functioning DDC gene into the putamen, increasing the AADC enzyme and restoring dopamine production.

"Today's approval from the European Commission for Upstaza for the treatment of AADC deficiency is momentous for patients, for PTC, as well as for the larger gene therapy community," said Stuart W. Peltz, CEO, PTC Therapeutics, in the press release. "We are proud to bring this innovative therapy to the marketplace so that patients may benefit [and] are ready to deliver this long-awaited treatment to patients as soon as possible."