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.
Rare Diseases Epidemiology: Update and Overview
Part I Introduction.- Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data.- Part II Rare diseases diagnosis.- Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis.- Intellectual disability & rare disorders: A diagnostic challenge.- Improved diagnosis and care for rare diseases through implementation of a precision public health framework.- Part III Registries, Natural History of Rare Diseases and Biobanks.- Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease.- Facilitating Clinical Studies in Rare Diseases.- Rare Diseases Biospecimens and patient registries: Interoperability for research promotion, a European example: EuroBioBank and Spain RDR-BioNER.- Data Quality in Rare Diseases Registries.- Preparing data at the source to foster interoperability across r
are disease resources.- Part IV Orphan drugs and therapies.- Incentivizing orphan product development: United States Food and Drug Administration orphan incentive programs.- Post-approval Studies for Rare Disease Treatments and Orphan Drugs.- Evidence-Based Medicine and Rare Diseases.- Health technology assessment and appraisal of therapies for rare diseases.- New Therapeutic Uses for Existing Drugs.- Patient empowerment and involvement in research.- Part V Cost-Effectiveness and Cost-of-illness.- Cost-effectiveness methods and newborn screening assessment.- Cost-of-illness in rare diseases.- Part VI Rare Diseases Prevention.- Primary prevention of congenital anomalies: special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases.- Newborn Screening: Beyond the Spot.- Part VII New Research Perspectives in RD.- A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).- Prospects of Pluripotent and Adult Stem Cells for Rare Diseases.- Personalized Medicine: What's in for Rare Diseases?.- Microphysiological systems (tissue chips) and their utility for rare disease research.- Part VIII Rare Diseases Epidemiology.- Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge.- Rare neurodegenerative diseases: clinical and genetic aspects.- Immunological rare diseases.- Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.- Mortality Statistics and their Contribution to Improving Rare Diseases Epidemiology: the Example of Hereditary Ataxia in Europe.- Congenital Anomalies: Cluster detection and investigation.- Part IX Rare Diseases policies and society.- The European Union Policy in the Field of Rare Diseases.- The role of solidarity(-ies) in rare diseases research.- Bridging the gap between health and social care for rare diseases: key issues and innovative solutions.- Health systems sustainability and rare diseases.- Preparing for the Future of Rare Diseases.- Index.