Rare diseases are often under- or misdiagnosed. For those people that are accurately diagnosed, they often face a lack of treatment options for their rare disease. With limited data and sparse, often heterogeneous, patient populations, it has been difficult to characterize the clinical manifestations, natural history and evolution of rare diseases to the extent necessary to optimally support clinical drug development.
Real-world data has the potential to change how providers diagnose rare diseases and enhance understanding of disease manifestations. From the perspective of those developing new therapeutics, real-world data can also inform trial design with more appropriate, patient-centric protocols.
The application of longitudinal objective laboratory data and physician diagnostic coding in the patient care setting can also provide critical information about pathologic mutations and elucidate potential relationships between co-existing conditions and reported phenotypes.
This webinar discusses novel methods and advanced approaches for data analysis of longitudinal real-world data to address how to best identify, treat and develop novel therapies for rare diseases. The presenters will discuss their journey with predictive modelling, mapping of virtual natural histories and the role of artificial intelligence and machine learning to influence the drug development process and bring innovative medicines to patients faster.
Presented by
Leone Atkinson, MD, PhD,
Executive Director, Rare Disease & Pediatric Team
Dr. Atkinson is a neurologist with a doctorate in medical genetics. She joined Covance in 2011 after serving as a Medical Consultant for Biopharmaceutical companies and the National Institutes of Health. From 2007-2010, she served as Executive Director of Clinical Development at PTC Therapeutics where she was responsible for the global clinical development program for ataluren in Duchenne Muscular dystrophy and other rare genetic disorders. From 2004-2007, she served as a Clinical Research Director at Sanofi-Aventis, where she led a large clinical program for the treatment of Multiple Sclerosis. Prior to this role, she served as Associate Medical Director of Neuroscience at Novartis Pharmaceuticals.
Frederick Derosier, DO,
Executive Director, Rare Diseases and Pediatrics
Dr. Derosier has 17 years of experience, primarily in neuroscience and rare diseases, in the pharmaceutical and biotechnology industry. In clinical development, he has broad experience across Phases I through IV encompassing a variety of medical platforms including small molecules, combination products, biologics, neurotoxins and RNA therapeutics. At Covance, he co-chairs the pan-enterprise Advanced Therapies, Drugs, and Devices Development group and focuses on strategic considerations for patient-centric drug development within rare disease.