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Working to Treat Mitochondrial Epilepsy – One Seizure at a Time

February 8, 2021

  1. 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…

  2. Accelerating DMD Diagnosis in Russia

    In 2019, PTC initiated a diagnostic program in Russia with the objective of improving and accelerating access to genetic testing for patients with Duchenne Muscular Dystrophy (DMD). Due to the geographic and population largeness of Russia, differences in health care standards and funding across the vastness of the country limit access to vital diagnostic testing,…

  3. Passing the Baton in a Multiyear Race – Beating Huntington’s Disease

    When the time came for biologist Anu Bhattacharyya, Ph.D. to hand off leadership duties for the PTC Huntington’s disease (HD) research project to clinical project leader Brian Beers, she felt like she was passing the baton in a relay race. As with such a race, your heart continues to beat furiously for a few moments…

  4. First and Largest Real-World Study of Nonsense Mutation DMD Patients – Advancing Understanding of the Disease

    PTC has established the Strategic Targeting of Registries and International Database of Excellence (STRIDE) patient registry. STRIDE is an ongoing, multi-center, observational study evaluating the safety and effectiveness of PTC’s novel therapeutic treatment in routine care of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). STRIDE is a collaborative partnership between TREAT-NMD and PTC Therapeutics,…

  5. Advancing Diagnosis of AADC Deficiency

    Rare Resolve for Rare Disease is a PTC education campaign aimed at raising awareness of aromatic l-amino acid decarboxylase (AADC) deficiency, and accelerating the recognition, referral and diagnosis of patients with this rare disease. The campaign objective is to educate, equip and motivate healthcare professionals (HCPs) such as pediatricians and neurologists, as well as parents…

  6. SMA Therapy: A Winding Path to Success

    Learn how PTC Therapeutics developed our spinal muscular atrophy (SMA) therapy from our founder and CEO Stuart Peltz, VP & Head of Group External Affairs and Alliance Management Nikolai Naryshkin, and other members of our dedicated team.

  7. Improving Neuromuscular Disorders Diagnosis Through e-Learning

    Our PTC team in the United Kingdom partnered with expert Dr. Henriette van Ruiten, a neuromuscular clinician, and her colleagues at the John Walton Muscular Dystrophy Research Centre, Newcastle and the Royal College of Paediatrics and Child Health (RCPCH) to support the development of an accredited e-learning module. “Recognising Neuromuscular Disorders – A Practical Approach”…

  8. Improving Duchenne Care with Physiotherapy

    PTC has introduced a physiotherapy education program, consisting of a series of activities specifically designed to support improved Duchenne care, both in professional physiotherapy practice and also at home. Duchenne muscular dystrophy (Duchenne or DMD) is an inherited disorder which, although rare, is the most common form of muscular dystrophy. Duchenne can have a huge…

  9. Our CEO Has Big Plans

    PTC founder and Chief Executive Officer, Stuart Peltz, Ph.D., was recently the subject of a MassBio profile. When asked about the future of PTC, he had this to say: PTC has been growing rapidly over the last two years and we will continue to grow and expand in the upcoming year. We plan to launch…

  10. Advancing Gene Therapies – Interview with Mark Pykett, CSO

    Gene therapy can revolutionize how we treat patients with rare diseases. As we work to discover and develop therapeutics for patients living with genetic disorders, PTC Chief Scientific Officer, Mark Pykett, explains our strategy and goals for gene therapy. “PTC is a global company with a commitment spanning more than two decades to patients with…