Chiesi Rare Disease Highlights at WORLDSymposia 2026 скачать в хорошем качестве

Chiesi Rare Disease Highlights at WORLDSymposia 2026

Rachele Berria, MD, PhD, Senior Vice President, Head of Global Medical Affairs at Chiesi Rare Diseases, gives an overview of the company’s highlights at WORLDSymposia 2026. According to Dr. Berria, the biggest unmet needs in lysosomal storage disorders (LSDs) are screening and diagnosis, keeping patients on therapy, and neurological symptoms and impairment. A poster presented at the conference looked at the gender differences in patients with Fabry disease where it was observed that female patients tend to present with the similar symptoms as men but are diagnosed much later, despite a long delay for all patients. A need for better treatment options in LSDs was also evident based on results of key reasons for patient’s discontinuation of enzyme replacement therapy (ERT), including a switch to oral therapy and the length of infusion. Finally, neurological manifestations are an area of unmet need due to the difficulty most ERTs have in crossing the blood-brain barrier. To address this unmet need, the company is working in partnership with Swedish biotech company Key2Brain to develop a novel platform for enzyme replacement therapy (ERT). This platform aims to give ERTs the ability to cross the blood-brain barrier and reach cerebrospinal fluid to address symptoms in both the body and the brain. Dr. Berria also explains how Chiesi Rare Disease focuses on the unique considerations in clinical trial operations, patient engagement, role of caregivers and parents, and need for innovative evidence generation that are present in rare diseases. With an emphasis on patient voice, the company is working in collaboration with patient advocacy groups to design clinical trials and evaluate real-world evidence to bridge the gap between clinical trial data and real-world evidence. CHAPTERS Introduction 00:00 Chiesi’s Mission and Focus 00:47 Unmet Needs in LSDs 3:00 Development of Enzyme Replacement Therapies 5:29 Bridging Clinical Trial and Real World Data 6:39 Collaboration With Patient Advocates 9:01 Pipeline Research 10:30