PTC Marketing Approval EMA

European Medicines Agency Conference

PTC Therapeutics was seeking approval of PTC-AADC, a gene therapy candidate to treat aromatic l-amino acid decarboxylase (AADC) deficiency, from the European Medicines Agency (EMA). During the conference, the company highlights from clinical trials. We submitted our media clearly demonstrating before and after gene therapy.

Along with another parent, we provided our perspective of caring for our daughter with AADC deficiency and the burdens before receiving gene therapy. We then showed how this changed after receiving gene therapy and the progress our daughter has made two years post-op. At the end we were available for member to ask questions.

Although we played a very small role in the this massive undertaking, we were proud to help in any way.

The gene therapy Upstaza (eladocagene exuparvovec), formerly PTC-AADC, was recommended for approval on 19 May 2022. This brings hope for treatment in the European Union for patients, ages 18 months and older, with severe aromatic l-amino acid decarboxylase (AADC) deficiency.

The favorable opinion was made by the Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency. The committee’s recommendations are generally accepted by the European Commission (EC), which makes the final decision on approvals for all medicines in the EU. It is expected to be approved by the commission in about two months.

Since AADC deficiency was first identified in 1990 — more than 30 years ago — the situation finally seems to be improving, and momentum is gaining.