Gene Therapy Upstaza OK’d in Europe to Treat AADC Deficiency

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by Marisa Wexler, MS |

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Note: This story was updated on July 21, 2022, to note PTC is planning to request FDA approval of Upstaza.

The European Commission has approved the gene therapy Upstaza (eladocagene exuparvovec) to treat aromatic l-amino acid decarboxylase (AADC) deficiency in patients ages 18 months and older.

The approval covers all 27 member states of the European Union, as well as Iceland, Norway, and Liechtenstein.

PTC also intends to request U.S. Food and Drug Administration (FDA) approval of Upstaza, in the form of a biologics license application (BLA), in the third quarter of 2022.

Upstaza, formerly called PTC-AADC, is the first ever disease-modifying treatment to be approved for AADC deficiency. It’s also the first approved gene therapy administered directly into the brain, according to the treatment’s developer, PTC Therapeutics.

“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. We are proud to bring this innovative therapy to the marketplace so that patients may benefit,” Stuart Peltz, PhD, CEO of PTC, said in a press release.

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“Upstaza is the first and only approved disease-modifying treatment for patients living with AADC deficiency. We are ready to deliver this long-awaited treatment to patients as soon as possible,” Peltz said.

The new approval follows a positive recommendation earlier this year from the Committee for Medicinal Products for Human Use, an arm of the European Medicines Agency.

The approval was supported by findings by two open-label clinical trials in Taiwan (NCT01395641NCT02926066) as well as data from children treated with Upstaza under compassionate use programs. Long-term data showed marked improvements in motor and cognitive function in children with AADC deficiency who were treated with Upstaza.

“Before treatment, our daughter had not met any development milestones. She suffered from oculogyric crises that evolved into hours of pain, and we were told she would be bedridden for life,” Richard Poulin said in a press release. “After receiving Upstaza, she is now speaking, walking, running, and even riding horses.”

Poulin, whose daughter was treated with Upstaza as part of a clinical trial, is founder of the patient organization Teach RARE. He also writes a column, “The Journey of Beautiful Destinations” for AADC News.

“We’re thrilled with the EMA approval and the hope that this milestone brings to other children and families impacted by AADC deficiency,” Poulin said.