In the United States, a rare disease is defined by the Orphan Drug Act as a disorder or condition that affects fewer than 200,000 persons. For the approval of "orphan" drug products for rare diseases, the traditional approach of power analysis for sample size calculation is not feasible because there are only limited number of subjects available for clinical trials. In this case, innovative approaches are needed for providing substantial evidence meeting the same standards for statistical assurance as drugs used to treat common conditions. Innovative Methods for Rare Disease Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives. Key Features: Reviews critical issues (e.g., endpoint/margin selection, sample size requirements, and complex innovative design). Provides better understanding of statistical concepts and methods which may be used in regulatory review and approval. Clarifies controversial statistical issues in regulatory review and approval accurately and reliably. Makes recommendations to evaluate rare diseases regulatory submissions. Proposes innovative study designs and statistical methods for rare diseases drug development, including n-of-1 trial design, adaptive trial design, and master protocols like platform trials. Provides insight regarding current regulatory guidance on rare diseases drug development like gene therapy.

In the United States, a rare disease is defined by the Orphan Drug Act as a disorder or condition that affects fewer than 200,000 persons. For the approval of "orphan" drug products for rare diseases, the traditional approach of power analysis for sample size calculation is not feasible because there are only limited number of subjects available for clinical trials. In this case, innovative approaches are needed for providing substantial evidence meeting the same standards for statistical assurance as drugs used to treat common conditions. Innovative Methods for Rare Disease Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives. Key Features: Reviews critical issues (e.g., endpoint/margin selection, sample size requirements, and complex innovative design). Provides better understanding of statistical concepts and methods which may be used in regulatory review and approval. Clarifies controversial statistical issues in regulatory review and approval accurately and reliably. Makes recommendations to evaluate rare diseases regulatory submissions. Proposes innovative study designs and statistical methods for rare diseases drug development, including n-of-1 trial design, adaptive trial design, and master protocols like platform trials. Provides insight regarding current regulatory guidance on rare diseases drug development like gene therapy.

Innovative Methods for Rare Diseases Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives.

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

A disease is defined as rare if the prevalence is fewer than 200,000 in the United States. It is estimated that there are more than 7,000 rare diseases, which collectively affect 30 million Americans or 10% of the US population. This diverse and complex disease area poses challenges for patients, caregivers, regulators, drug developers, and other stakeholders. This book is proposed to give an overview of the common issues facing rare disease drug developers, summarize challenges specific to clinical development in small populations, discuss drug development strategies in the evolving regulatory environment, explain generation and utilization of different data and evidence inside and beyond clinical trials, and use recent examples to demonstrate these challenges and the development strategies that respond to the challenges. Key Features: • Rare disease. • Drug development. • Innovative clinical trial design. • Regulatory approval. • Real-world evidence.

The process for developing new drug and biologic products is extraordinarily expensive and time-consuming. Although large pharmaceutical companies may be able to afford the cost of development because they can expect a large return on investment, organizations developing drugs to treat rare and neglected diseases are unable to rely on such returns. On June 23, 2008, the Institute of Medicine's Forum on Drug Discovery, Development, and Translation held a public workshop, "Breakthrough Business Models: Drug Development for Rare and Neglected Diseases and Individualized Therapies," which sought to explore new and innovative strategies for developing drugs for rare and neglected diseases.

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.