Rare Diseases And Orphan Drugs

Book Description :

Orphan drugs are designated drug substances that are intended to treat rare or ‘orphan’ diseases. More than 7000 rare diseases are known that collectively affect some 6-7% of the developed world’s population; however, individually, any single, rare disease may only affect a handful of people making them commercially unattractive for the biopharmaceutical industry to target. Ground breaking legislation, starting with the Orphan Drug Act that was passed in the US in 1983 to provide financial incentives for companies to develop orphan drugs, has sparked ever increasing interest from biopharmaceutical companies to tackle rare diseases. These developments have made rare diseases, and the orphan drugs that treat them, sufficiently attractive to pharmaceutical development and many pharmaceutical companies now have research units dedicated to this area of research. It is therefore timely to review the area of orphan drugs and some of the basic science, drug discovery and regulatory factors that underpin this important, and growing, area of biomedical research. Written by a combination of academic and industry experts working in the field, this text brings together expert authors in the regulatory, drug development, genetics, biochemistry, patient advocacy group, medicinal chemistry and commercial domains to create a unique and timely reference for all biomedical researchers interested in finding out more about orphan drugs and the rare diseases they treat. Providing an up-to-date monograph, this book covers the basic science, drug discovery and regulatory elements behind orphan drugs and will appeal to medicinal and pharmaceutical chemists, biochemists and anyone working within the fields of rare disease research and drug development or pharmaceuticals in industry or academia.

Book Description :

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.

Book Description :

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.

Book Description :

This authoritative and comprehensive book makes the reader familiar with the processes of bringing orphan drugs to the global market. There are between 5,000 and 7,000 rare diseases and the number of patients suffering from them is estimated to be more than 50 million in the US and Europe. Before the orphan drug legislation enacted in the US in 1983, there was a limited interest from industry to develop treatment for very small patient groups. One of the difficulties is, of course, that similar levels of investment are needed from a pharmaceutical company to bring a drug to the market for both small and large patient groups. The journey from application of an orphan drug designation to a reimbursed market- approved drug is long and many obstacles occur during the journey. After reading the book, readers will: Understand who the players/stakeholders are in the rare orphan disease field and their specific needs and concerns: patients and patient organizations, researchers and treating physicians within the field, industry, regulatory and reimbursement bodies* Understand the strong partnership between the different players and the various initiatives to improve and increase access to treatment for patients; minimizing the gap between numbers of known diseases, orphan designations, approved drugs and paid drugs. The book also provides short practical case stories from patients and researchers, as well as representatives from industry and authorities on the challenges they came across in developing orphan drugs or getting access to orphan drugs. A comprehensive overview of strategy, key activities and considerations of how to bring an orphan drug from concept to the market and make it available to patients A source of updated information, news and trends for those who are already active in this fast-evolving field Covers the global definitions and the criteria for getting an orphan drug designation in, for example, the US and Europe

Book Description :

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.

Book Description :

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Book Description :

This book provides an up-to-date monograph on the drug discovery and regulatory elements of therapeutics used to treat rare or "orphan" diseases.

Book Description :

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.

Book Description :

Download Global Pediatric Development of Drugs Biologics and Medical Devices book written by Jocelyn Jennings,Linda McBride, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Book Description :

In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.

Book Description :

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Book Description :

A primary concern of rare disease diagnosis is the lack of accurate information that may lead to delayed interventions, administering inaccurate treatments, and social consequences. Health communication continues to be one-way and rely on the expertise from the health practitioner. In such a broad spectrum of rare diseases, patients may find it difficult to obtain timely information, accurate diagnosis, and appropriate treatments, surgeries, medications, or psychological counseling in their own countries. The use of information and communication technologies can create new communication channels that address this lack of knowledge. Communicating Rare Diseases and Disorders in the Digital Age is an essential reference source that uses computer-mediated communication to improve patient knowledge when afflicted or dealing with rare health conditions. Featuring research on topics such as support networking, eHealth management, and social computing, this book is ideally designed for health practitioners, physicians, patients, medical administrators, nurses, surgeons, infectious disease educators, hospital directors, world health organizations, academicians, students, and researchers seeking coverage on current advances in health communication, computer science, and epidemiology.

Book Description :

This book illustrates, in a comprehensive manner, the most crucial principles involved in pharmacology and allied sciences. The title begins by discussing the historical aspects of drug discovery, with up to date knowledge on Nobel Laureates in pharmacology and their significant discoveries. It then examines the general pharmacological principles - pharmacokinetics and pharmacodynamics, with in-depth information on drug transporters and interactions. In the remaining chapters, the book covers a definitive collection of topics containing essential information on the basic principles of pharmacology and how they are employed for the treatment of diseases. Readers will learn about special topics in pharmacology that are hard to find elsewhere, including issues related to environmental toxicology and the latest information on drug poisoning and treatment, analytical toxicology, toxicovigilance, and the use of molecular biology techniques in pharmacology. The book offers a valuable resource for researchers in the fields of pharmacology and toxicology, as well as students pursuing a degree in or with an interest in pharmacology.

Book Description :

Drug repurposing or drug repositioning is a new approach to presenting new indications for common commercial and clinically approved existing drugs. For example, chloroquine, an old antimalarial drug, showed promising results for treating COVID-19, interfering with MDR in several types of cancer, and chemosensitizing human leukemic cells.This book focuses on the hypothesis, risk/benefits, and economic impacts of drug repurposing on drug discovery in dermatology, infectious diseases, neurological disorders, cancer, and orphan diseases. It brings together up-to-date research to provide readers with an informative, illustrative, and easy-to-read book useful for students, clinicians, and the pharmaceutical industry.

Book Description :

This authoritative and comprehensive book makes the reader familiar with the processes of bringing orphan drugs to the global market. There are between 5,000 and 7,000 rare diseases and the number of patients suffering from them is estimated to be more than 50 million in the US and Europe. Before the orphan drug legislation enacted in the US in 1983, there was a limited interest from industry to develop treatment for very small patient groups. One of the difficulties is, of course, that similar levels of investment are needed from a pharmaceutical company to bring a drug to the market for both small and large patient groups. The journey from application of an orphan drug designation to a reimbursed market- approved drug is long and many obstacles occur during the journey. After reading the book, readers will: Understand who the players/stakeholders are in the rare orphan disease field and their specific needs and concerns: patients and patient organizations, researchers and treating physicians within the field, industry, regulatory and reimbursement bodies* Understand the strong partnership between the different players and the various initiatives to improve and increase access to treatment for patients; minimizing the gap between numbers of known diseases, orphan designations, approved drugs and paid drugs. The book also provides short practical case stories from patients and researchers, as well as representatives from industry and authorities on the challenges they came across in developing orphan drugs or getting access to orphan drugs. A comprehensive overview of strategy, key activities and considerations of how to bring an orphan drug from concept to the market and make it available to patients A source of updated information, news and trends for those who are already active in this fast-evolving field Covers the global definitions and the criteria for getting an orphan drug designation in, for example, the US and Europe

Book Description :

OBJECTIVES: In 1983 the US Orphan Drug Act was passed to facilitate commercialization of drugs to treat rare diseases. The market value for orphan drugs in the US reached $90 billion annually in 2014, with worldwide sales forecast at $176 billion. Payers and policymakers need robust methodology for evaluation of health technology in this growing landscape of expensive treatments for rare diseases. Here I present a systematic review of current practices in value-based evaluation of orphan drugs from a global perspective. I also propose a potential new framework to be developed as new metric for assessing the value of orphan drugs, the Orphan Drug Index Estimate (ODIE). METHODS: For the systematic review, searches were conducted in December 2015 in PubMed®, EMBASE®, and Web of Science® databases using the following keywords: orphan drug, rare disease treatment, economics, resource utilization, cost, cost effectiveness, questionnaire, and value. Only references published in English were included. Manuscripts that solely reported one of the following were excluded: clinical or patient care, policy or legislation on orphan drugs particularly relating to research incentive, opinion or editorial, preclinical studies, drug-development, unrelated to rare diseases or healthcare, reviews other than systematic reviews for health technology assessment. RESULTS: A total of 2513 unique references were obtained, and screened by title and abstract according to exclusion criteria. After exclusion, 333 references remained for full evaluation. Of those, an additional 296 were excluded, but 51 additional studies were included from the reference lists of included articles. A total of 88 articles were included in the complete analysis. Overall, the methodology employed for conducting cost-effectiveness assessments followed traditional techniques including decision analysis and Markov modeling techniques. The reported incremental cost effectiveness ratios (ICERs) ranged from dominant treatments to a high of €6.1 million per quality adjusted life year (QALY). Interpretation of the results was more challenging, with 43% of studies reporting ICERs that would not be considered cost-effective under a willingness-to-pay threshold of $50,000 per QALY. In spite of the lack of cost-effectiveness, the majority of authors agreed that since the treatment under review is for a rare condition, there is an obligation to cover the costs. In light of these analyses, there is an evident need for a method of analysis that is more comprehensive than the ICER, and more appropriate for addressing the uniqueness of orphan drugs, including variables related to the rarity and severity of disease, and a broader societal perspective on costs, including societal burden and identifiable opportunity costs. In response, here I propose a potential new metric based on multicriteria decision analysis (MCDA) techniques to provide a more comprehensive evaluation of orphan drugs. CONCLUSIONS: There is a global consensus of a need to develop appropriate methodology, analysis techniques, and related policies to address management of expensive treatments. It is not yet clear how best to evaluate the value of orphan drugs. More thorough evaluation and validation of novel modeling techniques, analytic rationale and proactive policy changes are needed to redefine the status quo of health technology assessment of rare disease treatments. I propose a new metric to overcome some limitations of the ICER in evaluation of rare diseases. Continued research is needed in detailed development of a valid, quantifiable, and reproducible metric; however, the work presented here provides a foundation for the development process.

Book Description :

This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Book Description :

LOS ANGELES TIMES AND PUBLISHERS WEEKLY BESTSELLER • The powerful memoir of a young doctor and former college athlete diagnosed with a rare disease who spearheaded the search for a cure—and became a champion for a new approach to medical research. “A wonderful and moving chronicle of a doctor’s relentless pursuit, this book serves both patients and physicians in demystifying the science that lies behind medicine.”—Siddhartha Mukherjee, New York Times bestselling author of The Emperor of All Maladies and The Gene David Fajgenbaum, a former Georgetown quarterback, was nicknamed the Beast in medical school, where he was also known for his unmatched mental stamina. But things changed dramatically when he began suffering from inexplicable fatigue. In a matter of weeks, his organs were failing and he was read his last rites. Doctors were baffled by his condition, which they had yet to even diagnose. Floating in and out of consciousness, Fajgenbaum prayed for a second chance, the equivalent of a dramatic play to second the game into overtime. Miraculously, Fajgenbaum survived—only to endure repeated near-death relapses from what would eventually be identified as a form of Castleman disease, an extremely deadly and rare condition that acts like a cross between cancer and an autoimmune disorder. When he relapsed while on the only drug in development and realized that the medical community was unlikely to make progress in time to save his life, Fajgenbaum turned his desperate hope for a cure into concrete action: Between hospitalizations he studied his own charts and tested his own blood samples, looking for clues that could unlock a new treatment. With the help of family, friends, and mentors, he also reached out to other Castleman disease patients and physicians, and eventually came up with an ambitious plan to crowdsource the most promising research questions and recruit world-class researchers to tackle them. Instead of waiting for the scientific stars to align, he would attempt to align them himself. More than five years later and now married to his college sweetheart, Fajgenbaum has seen his hard work pay off: A treatment he identified has induced a tentative remission and his novel approach to collaborative scientific inquiry has become a blueprint for advancing rare disease research. His incredible story demonstrates the potency of hope, and what can happen when the forces of determination, love, family, faith, and serendipity collide. Praise for Chasing My Cure “A page-turning chronicle of living, nearly dying, and discovering what it really means to be invincible in hope.”—Angela Duckworth, #1 New York Times bestselling author of Grit “[A] remarkable memoir . . . Fajgenbaum writes lucidly and movingly . . . Fajgenbaum’s stirring account of his illness will inspire readers.”—Publishers Weekly

Book Description :

This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.

Book Description :

Drug Discovery and Development, Third Edition presents up-to-date scientific information for maximizing the ability of a multidisciplinary research team to discover and bring new drugs to the marketplace. It explores many scientific advances in new drug discovery and development for areas such as screening technologies, biotechnology approaches, and evaluation of efficacy and safety of drug candidates through preclinical testing. This book also greatly expands the focus on the clinical pharmacology, regulatory, and business aspects of bringing new drugs to the market and offers coverage of essential topics for companies involved in drug development. Historical perspectives and predicted trends are also provided. Features: Highlights emerging scientific fields relevant to drug discovery such as the microbiome, nanotechnology, and cancer immunotherapy; and novel research tools such as CRISPR and DNA-encoded libraries Case study detailing the discovery of the anti-cancer drug, lorlatinib Venture capitalist commentary on trends and best practices in drug discovery and development Comprehensive review of regulations and their impact on drug development, highlighting special populations, orphan drugs, and pharmaceutical compounding Multidiscipline functioning of an Academic Research Enterprise, plus a chapter on Ethical Concerns in Research Contributions by 70+ experts from industry and academia specialists who developed and are practitioners of the science and business