Rare Disease Drug Development

Raymond A. Huml, MS, DVM, RAC; Vice President of Medical & Scientific Strategy, Head of the Rare Disease Consortium for Syneos Health Clinical Services, Morrisville, North Carolina, USADr. Huml has over 30 years in the healthcare and biopharmaceutical industries with over 15 years of experience in the rare disease field. Importantly, he has two children with a rare disease.  Bringing a unique and passionate drug development perspective to the table, Dr. Huml has published two books with Springer Publishing and several peer-reviewed papers through Springer affiliations, such as Drug Information Association’s (DIA’s) Journal of Therapeutic Strategy & Regulatory Science.  Dr. Huml has assembled a team of rare disease experts for this book proposal that span the entire spectrum of rare disease drug development from selecting patients for clinical trials through approval and even post marketing, including commercialization activities.

“The book explores various rare disease drug development processes in disciplines such as oncology, haematology, paediatrics, and gene therapy. … each chapter offers interesting insights to anyone interested in drug development for rare diseases. Highly recommended.” (Geoff Case, RARE Revolution Magazine, Issue 26, 2023)

• Introduction to Rare Diseases and Market Overview.- The Patient Perspective.- Select Patient Narratives.- The Caregiver Perspective.- The Critical, Multidimensional Role of Patient Advocacy Groups in Rare Disease.- A Mental Health Perspective.- Investment Decisions Related to Rare Disease Drug Development.- Optimizing Rare Disease Registries and Natural History Studies.- Novel Approaches to Clinical Trials in Rare Diseases.- Patient Benefits from Innovative Designs in Rare Diseases.- Central Nervous System Rare Disease Drug Development.- Oncologic Rare Disease Drug Development .- Hematologic Rare Disease Drug Development.- Lessons From Rare Disease and Gene Therapy Clinical Studies in Ophthalmology.- Rare Diseases in the Pediatric Population.- Cell and Gene Therapy in Rare Diseases.- The Feasibility Assessment.- The Evolving Regulatory Space and the Advent of Patient-Focused Drug Development.- Operational Aspects of Rare Disease Drug Development.- Accelerating Rare Disease Drug Development.- Select Rare Disease Drug Approvals: Lessons Learned.- A Rapid Market Access Strategy for Orphan Medicinal Products (OMPs) with Highlights Regarding the Pricing and Reimbursement Process and Barriers to Patient Use.- Integrated Life Cycle Management for Rare and Orphan Products.- The Case for Real-World Data and Real-World Evidence Generation in Rare and Orphan Medicinal Drug Development.- Closing Remarks.-