One of the remarkable and unique aspects of the recent history of rare disease research has been the evolving role of patient advocacy groups and the collaborative partnership that exists among such groups and the scientists who study rare diseases, as well as the government officials charged with overseeing medical research and regulatory processes. This collaboration, which in many respects developed out of necessity on all sides, is unparalleled in other areas of medical research and product development. It has played a significant role over the past 30 years in the adoption of public policies, available research funding and other factors affecting the general climate for research on rare diseases. Specific areas of interest include the adoption of the Orphan Drug Act in the U.S. in 1983 and subsequent similar legislation elsewhere in the world; the relationship of patient advocacy groups with government research funding and regulatory entities; the role of patient advocacy groups in seeking to "de-risk" orphan product development through initiatives such as facilitating patient registries and disease natural histories; the role of advocacy groups in ensuring that patients have access to treatments; and the increasing globalization of patient advocacy initiatives.

The current system of biomedical innovation is unable to keep pace with scientific advancements. We propose to address this gap by reengineering innovation processes to accelerate reliable delivery of products that address unmet medical needs. Adaptive biomedical innovation (ABI) provides an integrative, strategic approach for process innovation. Although the term “ABI” is new, it encompasses fragmented “tools” that have been developed across the global pharmaceutical industry, and could accelerate the evolution of the system through more coordinated application. ABI involves bringing stakeholders together to set shared objectives, foster trust, structure decision‐making, and manage expectations through rapid‐cycle feedback loops that maximize product knowledge and reduce uncertainty in a continuous, adaptive, and sustainable learning healthcare system. Adaptive decision‐making, a core element of ABI, provides a framework for structuring decision‐making designed to manage two types of uncertainty – the maturity of scientific and clinical knowledge, and the behaviors of other critical stakeholders.

Based on advances in our understanding of genetics and pathophysiology, we are in the midst of an exciting therapeutic development period in rare diseases. The Orphan Drug Act defines as rare conditions those affecting <200 000 individuals in the United States. 1 Examples of rare diseases include cystic fibrosis, hemophilia, spinal muscular atrophy, and most lysosomal storage diseases. Collectively, rare diseases are common, affecting almost 30 million individuals in the United States. 2 Unfortunately, patients with rare diseases experience barriers to comprehensive care, and 95% of rare diseases lack US Food And Drug Administration (FDA)-approved disease-specific treatments. Key barriers to the delivery of high-quality care and therapeutic innovation include lack of access to disease experts, limited knowledge of disease course, and few partnerships between disease stakeholders. We propose a new health care model for patients with rare diseases, called the Care Continuum Model, which focuses on 3 concepts: (1) telehealth; (2) integration of care and research; and (3) improving patient-clinician-researcher collaboration.Traditional health care involves local delivery of care. This model does not meet the needs of patients with rare diseases. These disorders often require multidisciplinary expert care, and individually affect small numbers of individuals dispersed over wide geographic areas. Consequently, diagnosis is delayed, and distance and disability limit access to ongoing care.The Orphan Drug Act stimulated therapeutic development for rare diseases through provision of incentives, including tax credits, 7-year market exclusivity, protocol assistance, and grant support. 1 The positive impact of the Orphan Drug Act creates even greater urgency for expert, accessible care. Many new therapies necessitate treatment in or monitoring by specialized centers. Because new biological therapies target diseases earlier in their course, timely diagnosis is increasingly important. This approach requires experience with a variety of presentations and thorough understanding of complex genetic testing options.

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