Rare Diseases Epidemiology: Update and Overview

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. Front Matter ....Pages i-xxxvi Front Matter ....Pages 1-1 Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data (Stephen C. Groft, Manuel Posada de la Paz)....Pages 3-21 Front Matter ....Pages 23-23 Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis (Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl)....Pages 25-38 Intellectual Disability & Rare Disorders: A Diagnostic Challenge (Malin Kvarnung, Ann Nordgren)....Pages 39-54 Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework (Gareth Baynam, Faye Bowman, Karla Lister, Caroline E. Walker, Nicholas Pachter, Jack Goldblatt et al.)....Pages 55-94 Front Matter ....Pages 95-95 Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease (Rachel Thompson, Agata Robertson, Hanns Lochmüller)....Pages 97-124 Facilitating Clinical Studies in Rare Diseases (Rashmi Gopal-Srivastava, Petra Kaufmann)....Pages 125-140 Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER (Yaffa R. Rubinstein, Manuel Posada de la Paz, Marina Mora)....Pages 141-147 Data Quality in Rare Diseases Registries (Yllka Kodra, Manuel Posada de la Paz, Alessio Coi, Michele Santoro, Fabrizio Bianchi, Faisal Ahmed et al.)....Pages 149-164 Preparing Data at the Source to Foster Interoperability across Rare Disease Resources (Marco Roos, Estrella López Martin, Mark D. Wilkinson)....Pages 165-179 Front Matter ....Pages 181-181 Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs (Tran T. Le)....Pages 183-196 Post-approval Studies for Rare Disease Treatments and Orphan Drugs (William C. Maier, Ronald A. Christensen, Patricia Anderson)....Pages 197-205 Evidence-Based Medicine and Rare Diseases (Simon Day)....Pages 207-220 Health Technology Assessment and Appraisal of Therapies for Rare Diseases (Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Rumen Stefanov)....Pages 221-231 New Therapeutic Uses for Existing Drugs (Bobbie Ann Austin, Ami D. Gadhia)....Pages 233-247 Patient Empowerment and Involvement in Research (Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Analia Abt-Sacks, Ana Toledo-Chavarri, Noe Brito, Yolanda Álvarez-Pérez et al.)....Pages 249-264 Front Matter ....Pages 265-265 Cost-Effectiveness Methods and Newborn Screening Assessment (I. Castilla-Rodríguez, L. Vallejo-Torres, M. L. Couce, C. Valcárcel-Nazco, J. Mar, P. Serrano-Aguilar)....Pages 267-281 Cost-of-Illness in Rare Diseases (Renata Linertová, Lidia García-Pérez, Iñigo Gorostiza)....Pages 283-297 Front Matter ....Pages 299-299 Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases (Domenica Taruscio, Francesca Baldi, Pietro Carbone, Amanda J. Neville, Giovanni Rezza, Caterina Rizzo et al.)....Pages 301-322 Newborn Screening: Beyond the Spot (Tiina K. Urv, Melissa A. Parisi)....Pages 323-346 Front Matter ....Pages 347-347 A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC) (Christine M. Cutillo, Christopher P. Austin, Stephen C. Groft)....Pages 349-369 Prospects of Pluripotent and Adult Stem Cells for Rare Diseases (Javier García-Castro, Ilyas Singeç)....Pages 371-386 Personalized Medicine: What’s in it for Rare Diseases? (Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand)....Pages 387-404 Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research (Lucie A. Low, Danilo A. Tagle)....Pages 405-415 Front Matter ....Pages 417-417 Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge (Cormac McCarthy, Beatriz Lara Gallego, Bruce C. Trapnell, Francis X. McCormack)....Pages 419-442 Rare Neurodegenerative Diseases: Clinical and Genetic Update (Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais et al.)....Pages 443-496 Immunological Rare Diseases (Simone Baldovino, Elisa Menegatti, Dario Roccatello, Savino Sciascia)....Pages 497-509 Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity (Gareth Baynam, Caron Molster, Alicia Bauskis, Emma Kowal, Ravi Savarirayan, Margaret Kelaher et al.)....Pages 511-520 Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe (Greta Arias Merino, Germán Sánchez Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso Ferreira)....Pages 521-533 Congenital Anomalies: Cluster Detection and Investigation (Eva Bermejo-Sánchez, Manuel Posada de la Paz)....Pages 535-557 Front Matter ....Pages 559-559 The European Union Policy in the Field of Rare Diseases (Antoni Montserrat Moliner, Jaroslaw Waligora)....Pages 561-587 The Role of Solidarity(-ies) in Rare Diseases Research (Deborah Mascalzoni, Carlo Petrini, Domenica Taruscio, Sabina Gainotti)....Pages 589-604 Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions (Raquel Castro, Juliette Senecat, Myriam de Chalendar, Ildikó Vajda, Dorica Dan, Béata Boncz et al.)....Pages 605-627 Health Systems Sustainability and Rare Diseases (Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio)....Pages 629-640 Preparing for the Future of Rare Diseases (Stephen C. Groft, Manuel Posada de la Paz)....Pages 641-648 Back Matter ....Pages 649-667