Founded in 1998, PTC Therapeutics is a global biopharmaceutical company pioneering transformative therapies for people living with rare diseases. PTC has a footprint in more than 50 countries around the world, including an International Headquarters based in Dublin, Ireland since 2014.
PTC has achieved historic scientific breakthroughs and delivered a number of life-changing therapies to patients that address multiple therapeutic areas with high unmet need including; Duchenne Muscular Dystrophy, Spinal Muscular Atrophy and more recently a transformative gene therapy for Aromatic l‐amino acid decarboxylase (AADC) deficiency.
PTC’s gene therapy product for AADC deficiency, marketed in Europe as Upstaza (eladocagene exuparvovec) is the first ever-gene therapy to be administered directly into the brain. It received approval in the European Union in 2022, followed by regulatory approvals in a number of global markets including Israel, Taiwan, and Brazil. In November 2024, PTC received approval for the transformative gene therapy in the United States by the Food and Drug Administration (FDA) which will be marketed in the US with the brand name KEBILIDI (eladocagene exuparvovec-tneq).
AADC deficiency is a highly morbid and life-shortening rare genetic disorder that results in the inability to synthesize dopamine, a neurotransmitter essential for motor function. KEBILIDI is a gene replacement therapy that is directly administered to the putamen of the brain through a stereotactic neurosurgical procedure. Clinical trial results demonstrate that following gene therapy, de novo synthesis of dopamine occurs, followed by the progressive acquisition of motor development milestones.
Read more on this milestone in the company’s press release.
Áine Hopkins, Vice President, Quality Operations at PTC and CGT Forum member, based in Dublin oversees the quality of products manufactured, tested and distributed across global markets and has been involved with the commercial launch for Upstaza/Kebilidi.
Together with her team and the cross functional regional and global teams based in Dublin, they facilitate supply of PTC’s gene therapy and other approved medicines across more than 50 geographies spanning over Europe, Middle East and Africa (EMEA) and Asia Pacific (APAC) regions.
“The treatments we work on are life changing for our patients and their families and provide hope where often there is none, as in too many cases there are no other treatments available. Many of the diseases we are tackling are paediatric diseases, affecting children, so the impact we see is positive, both on the patients but also on their families” says Áine.
For their innovation and leadership, PTC has been widely recognized in the industry. In Europe specifically, PTC has received the following accolades;
- European Diversity Awards ‘Community Project of the Year’ 2024
- Life Science Industry Awards Ireland ‘Best Strategic Partnership’ 2024
- Eurordis ‘Company Award for Innovation’ 2023
- The LifeScience Industry Ireland ‘Supply Chain Achievement Award’ 2023
- EuropaBio ‘25 Years of Innovation’ company 2021
“We are a small biopharmaceutical company that has made big strides. Our clinical and business achievements are the result of our highly innovative and relentless culture. We are extremely proud that our efforts continue to be recognized in the community and the industry” says Áine.
