Author : Institute of Medicine
Publisher : National Academies Press
Page : 442 pages
File Size : 22,71 MB
Release : 2011-04-03
Category : Medical
ISBN : 0309158060
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.
Author : Jules J. Berman
Publisher : Academic Press
Page : 407 pages
File Size : 17,19 MB
Release : 2014-05-26
Category : Medical
ISBN : 0124200095
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
Author : Raymond A. Huml
Publisher : Springer Nature
Page : 418 pages
File Size : 46,42 MB
Release : 2021-11-08
Category : Medical
ISBN : 3030786056
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.
Author : Elizabeth Hernberg-Ståhl
Publisher : Elsevier
Page : 336 pages
File Size : 29,94 MB
Release : 2013-11-15
Category : Medical
ISBN : 1908818395
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
Author : Shein-Chung Chow
Publisher : CRC Press
Page : 321 pages
File Size : 44,24 MB
Release : 2020-11-11
Category : Mathematics
ISBN : 1000208214
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.
Author : David Pryde
Publisher : Royal Society of Chemistry
Page : 487 pages
File Size : 42,69 MB
Release : 2014-07-30
Category : Science
ISBN : 1782624201
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.
Author : Manuel Posada de la Paz
Publisher : Springer
Page : 675 pages
File Size : 45,80 MB
Release : 2017-12-06
Category : Medical
ISBN : 3319671448
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.
Author : Agency for Healthcare Research and Quality/AHRQ
Publisher : Government Printing Office
Page : 385 pages
File Size : 14,8 MB
Release : 2014-04-01
Category : Medical
ISBN : 1587634333
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.
Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
Page : 982 pages
File Size : 25,22 MB
Release : 2003
Category : Medical
ISBN : 9780781730631
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.
Author : Nicolas Sireau
Publisher : Routledge
Page : 237 pages
File Size : 39,64 MB
Release : 2017-09-08
Category : Business & Economics
ISBN : 135127838X
There are 7,000 rare diseases affecting 6%–8% of the global population. That's 3.5 million people in the UK alone. Yet only 200 rare diseases have approved treatments. In recent years, there has been a surge of interest from business and social entrepreneurs in the field of health – including looking at ways to treat rare disease patients better and faster. This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence. The book will be an essential toolkit for social and business entrepreneurs who are interested in the world of rare/orphan diseases. It has the rigour of an academic publication, along with the clarity of a lay publication. An original and timely book, Rare Diseases will help to add knowledge and awareness to a vastly under-published subject.
