Rare Disease Drug Development. Clinical, Scientific, Patient, and Caregiver Perspectives

1. Introduction to Rare Diseases and Market Overview – Raymond A. Huml, MS, DVM, RAC

2. The Patient Perspective - Meredith Huml

3. The Caregiver Perspective - Pat Furlong, RN

4. The Critical Role of Patient Advocacy Groups - Keri McDonough, MA

5. A Mental Health Perspective - Michelle Bailey, MD, MPH

6. Investment Decisions Related to Rare Disease Drug Development - Jonathan Tunnicliffe, MS, MBA and Devin Rosenthal, PhD, MBA

7. Optimizing Rare Disease Registries and Natural History Studies – Sharon Hesterlee, PhD

8. Innovative Clinical Trial Design - Zoran Antonijevic, MS, and Jonathan R. Huml

9. CNS Rare Disease Drug Development – Jane Williams, MD, MPH

10. Oncologic Rare Disease Drug Development – Laura Vidal, MD and Jozsef Palatka, MD
11. Hematologic Rare Disease Drug Development – Daniel Mazzolenis, MD and Liat Vidal, MD

12. Ophthalmic Rare Disease Drug Development – Nick Spittal, MBA

13. Pediatric Challenges and Issues –Alexander Cvetkovic Muntañola, MD

14. Cell and Gene Therapy - Peter Robinson, MBA

15. The Feasibility Assessment – Gloria Alley, RN and Marie Emms

16. The Evolving Regulatory Space – And the Advent of Patient Focused Drug Development - Annie Kennedy and James Valentine, JD, MHS

17. Operational Aspects Related to Rare Disease Drug Development – Cinzia Dorigo, PharmD

18. Accelerating Rare Disease Drug Development in Light of COVID-19 – Zizi Imatorbhebhe, MS, MBA, PMP

19. Rare Disease Drug Approvals: Lessons Learned – Raymond A. Huml, MS, DVM, RAC

20. Commercial and Reimbursement Challenges – Maryna Kolochavina, PharmD

21. Integrated Life Cycle Management – Maryna Kolochavina, PharmaD

22. The Case for Real World Evidence in Orphan Drug Development – David Thompson, PhD and Maryna Kolochavina, PharmD

23. Summary & Integration of Rare Disease Drug Development Concepts – Raymond A. Huml, MS, DVM, RAC

This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. 

A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. 

Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.

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, USA

Dr. 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.