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Rare Diseases Drug Development
Published in Wei Zhang, Fangrong Yan, Feng Chen, Shein-Chung Chow, Advanced Statistics in Regulatory Critical Clinical Initiatives, 2022
Shein-Chung Chow, Shutian Zhang, Wei Zhang
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people (ODA, 1983). Under this definition, there may be as many as 7,000 rare diseases in the United States. The total number of Americans living with a rare disease is estimated at between 25–30 million. This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large. In the United States, however, only a few types of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers. It also includes the diseases on state newborn screening tests. Because most rare diseases are not tracked, it is hard to determine the exact number of rare diseases or how many people are affected. Rare diseases are also known as orphan diseases because drug companies were not interested in developing treatments under economic (or return of investment) consideration. To overcome this dilemma, in 1983, the United States Congress passed the Orphan Drug Act which created several financial incentives to encourage pharmaceutical companies to develop new drugs for rare diseases (ODA, 1983).
The Food and Drug Administration
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
It is estimated that up to 20 million people in the United States suffer from one of 5000 rare diseases. In 1983, the Orphan Drug Act (61) was enacted to alleviate barriers to the development of orphan drugs. The major provisions of the Act included (1) written assistance with study protocols from the FDA; (2) granting “orphan” designations for drugs and biologicals intended to be used for rare diseases; (3) 7-year exclusive marketing privileges for designated unpatentable “orphan” drugs and biologies; (4) encouragement for open treatment protocols to facilitate development and distribution of INDs;(5) creation of an Orphan Products Board to coordinate federal efforts in orphan product development and to submit an annual report to Congress on the status of orphan drug activities; (6) allowance of tax credits for 50% of the cost of conducting clinical trials on orphan drugs (later extended until 1990 under the 1986 Tax Reform Act); and (7) authorization of up to $4 million per year for federal years 1983 through 1985 for grants and contracts for clinical trials.
Bayesian Frameworks for Rare Disease Clinical Development Programs
Published in Emmanuel Lesaffre, Gianluca Baio, Bruno Boulanger, Bayesian Methods in Pharmaceutical Research, 2020
Freda Cooner, Forrest Williamson, Bradley P. Carlin
Rare diseases, intuitively, have very low prevalence as opposed to common diseases. The term’s specific definition is bound by different regions through their respective regulatory health agencies. In the United States, a rare disease is defined as a condition affecting less than 200,000 of the individuals in the United States. As adopted by 28 member countries in the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people. Japan requires a rare disease to affect fewer than 50,000 Japanese patients, which corresponds to a maximal incidence of 4 per 10,000. Singapore’s Minister of Health describes a rare disease as a life threatening and severely debilitating illness affecting fewer than 20,000 people. Hence, a disease considered rare in one region is not necessarily rare in another.
Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care
Published in The American Journal of Bioethics, 2023
Meghan C. Halley, Nate W. Olson
An estimated 10,000 different rare diseases affect 25–30 million individuals in the United States alone (CDC 2020, 2021; Haendel et al. 2020). The majority (70–80%) of rare diseases have a known or suspected genetic etiology (Nguengang Wakap et al. 2020). With the rapidly advancing technologies and decreasing costs of genomic sequencing, our ability to identify, diagnose and, increasingly, to intervene upon these diseases with new therapeutic techniques increases daily. These advances have fueled a variety of innovative research paradigms, including studies demonstrating the ability of genomic sequencing technologies to identify new diseases in undiagnosed patients, individualized therapeutics designed, tested and implemented in a single patient-participant, and gene therapies representing an avenue toward cure for many rare diseases. Each of these efforts highlights the blurred boundaries between research and clinical care.
Addressing the Burdens That Newborn Screening Imposes on Underserved Communities
Published in The American Journal of Bioethics, 2023
Meghan E. Strenk, Courtney Berrios, Jeremy R. Garrett
As we reflect on the analysis of Halley et al. and compare it with our own experience, several themes emerge. First, we don’t know what we don’t know until we know it. Many rare diseases are diagnosed based on clinical symptoms in a patient. NBS has allowed population screening in which all individuals with a disease can be diagnosed. This has revealed that the spectrum of disease can be broader than expected (for example, more people have LOPD than IOPD, which was unanticipated) as well as the presence of other factors that can impact the screening result (e.g., pseudodeficiencies). In addition, the distribution of disease or pseudodeficiencies may be different than anticipated (e.g., pseudodeficiencies in minority ethnicities). Secondly, more information from NBS labs (secondary screening) can promote greater equity in the process by preventing disproportionate numbers of referrals of already underserved populations, though it is important to recognize that this may reduce logistical burdens without alleviating the emotional burdens of additional testing for families.
Patient-centered approaches for patients with systemic autoimmune rheumatic diseases: development and evolution
Published in Expert Review of Clinical Immunology, 2022
Panayiotis G Vlachoyiannopoulos, Loukas G Chatzis, Andreas V Goules, Ourania D Argyropoulou, Adamantia Englezopoulou, Ioanna Stergiou, Michalis Voulgarelis, Panayiotis Tsanakas, Themis Exarchos, Vassilis V Gorgoulis, Dimitrios I Fotiadis, Athanasios G Tzioufas
A rare disease earns its name from affecting a small proportion of the general population. Not surprisingly and as physicians’ awareness of and interest in those diseases deepens and better diagnostic tests become more available, rare diseases are rendered increasingly more recognizable. Thus, collectively, rare diseases are considered more of a global issue rather than objects of curiosity. In the United States, more than 30 million people are afflicted by more than 7000 rare diseases [35]. Nevertheless, those patients often seek diagnosis, treatment, and follow-up in hospitals where these medical conditions are very rarely seen. This compromises all aspects of patients’ care, from diagnosis to follow up. In systemic autoimmune and autoinflammatory disorders, typified by their systemic nature and myriad of clinical phenotypes, the situation is even more complicated and challenging for both patients and physicians. To this end, a restructure in healthcare policy and resource allocation is necessary.