Paul Wuh-Liang Hwu, MD, PhD, on Questions Remaining With AADC Deficiency

"In AADC deficiency, we’re working with patients, we’re working on mice, and trying to really dig into the pathogenesis, especially in younger patients, what exactly happens to the brain without dopamine... we need to learn more about what separates responders from non-responders.”

PTC Therapeutics’ eladocagene exuparvovec (PTC-AADC; Upstaza) has been granted marketing authorization by the European commission as the first disease-modifying, genetic therapy for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency.¹

Data from phase 1/2 clinical trials of Upstaza (NCT01395641; NCT02926066) demonstrated that treated patients reached clinically meaningful developmental milestones not seen in the natural history of the disease.² Cognitive and motor skill improvements have persisted for up to 10 years after treatment.

CGTLive spoke with study investigator Paul Wuh-Liang Hwu, MD, PhD, professor, National Taiwan University Hospital, about Upstaza as well as his work in Pompe disease and spinal muscular atrophy. He discussed how there is still more to learn about AADC deficiency and challenges in treating rare diseases.

REFERENCES

1. Upstaza™ granted marketing authorization by European Commission as first disease-modifying treatment for AADC deficiency. News release. PTC Therapeutics. July 20, 2022. https://ir.ptcbio.com/news-releases/news-release-details/upstazatm-granted-marketing-authorization-european-commission
2. Tai CH, Lee NC, Chien YH, Byrne BJ, Muramatsu SI, Tseng SH, Hwu WL. Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency. Mol Ther. 2022;30(2):509-518. doi:10.1016/j.ymthe.2021.11.005