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2022: A Year of Many Firsts

December 15, 2022
  1. 2022: A Year of Many Firsts

    For PTC, 2022 was a milestone-reaching, patient-supporting, award-winning, employee-engaging, community-driven year. It was also another year of many firsts. The first approved disease-modifying treatment for AADC deficiency, and the first marketed gene therapy directly infused into the brain, was approved in Europe and the UK. We also had the first global regulatory approval for treatment…

  2. Finding Light in the Dark – Advice from a Rare Disease Caregiver

    Jessica Fein is the mom to Dalia, who has myoclonus epilepsy with ragged-red fibers (MERRF) syndrome, an extremely rare disease and type of mitochondrial disorder. The following article was shared by Jessica and contributed to the PTC Newsroom to help spread awareness about MERRF syndrome and to help others who are affected by rare diseases.…

  3. Introducing Insightful Moments™, a Rare Disease Patient Education Series

    En español haz clic aquí Living with a rare disease or caring for someone with a rare disease comes with many challenges. In addition to processing new and complicated information and making countless decisions, it can be tough to know where to turn to for help, or where to even begin. To help support patients…

  4. What’s in Store for PTC in 2022

    Last week, we presented at the 40th Annual J.P. Morgan Healthcare Conference, an annual healthcare investment symposium connecting healthcare industry leaders, innovators, and the broader healthcare industry. Even though this year’s meeting was (once again) virtual, the excitement for everything that’s to come in 2022 was palpable – especially for us at PTC, as 2022…

  5. PTC in 2021: A Year of Expansion

    For PTC, 2021 was about expansion – not just literally, as we grew our global reach and added team members, but what we can do for patients, too, through our awareness efforts and continued dedication to scientific innovation. Expansion by definition is the act of becoming larger or more extensive. And in fact, we had so much good news in 2021, it was hard for us to pick the highlights to include…

  6. Our Commitment to the Rare Disease Community

    PTC was founded in 1998 by a scientist with a desire to serve patients with rare diseases and unmet medical needs. Over the course of our history, we have grown to a team of more than a thousand employees and developed new innovative therapies. However, we’ve always maintained our foundational commitment to our patients and…

  7. Life with Leigh Syndrome – Meet Brent, Suzette and Chloe

    Brent and Suzette Fields learned just what the phrase “don’t sweat the small stuff” means when their lives changed due to a rare disease diagnosis. Early in her first year of life, their daughter Chloe showed signs of some developmental delays which led them to seek physical therapy for her. After a few sessions, the…

  8. Working to Treat Mitochondrial Epilepsy – One Seizure at a Time

    Robert F. Kennedy famously said, “The purpose of life is to contribute in some way to making things better.” And when you’re in the rare disease business, you measure how you’re “making things better” on a micro, but no less vital, scale. For Vij Senthilnathan, a PTC leader in clinical operations working on the small…