Abstract
The rare disease community suffers from the absence of reliable epidemiological data on the prevalence and incidence of rare diseases in the national and global populations. The rare diseases community includes all of the stakeholders involved in the research and development and dissemination of products and information for the diagnosis, prevention or treatment of rare diseases or conditions. To replace many of the perceived myths with realities, several global efforts are required if we are going to sustain and increase the reported progress with the thousands of rare diseases. One is the identification and expansion of worldwide partnerships and collaborations of Patient Advocacy Groups for individual rare diseases. Another requirement is to develop a global research infrastructure of qualified investigators to stimulate and coordinate research efforts by seeking ways to provide access to clinical trials at multi-national research sites with common protocols and multi-disciplinary research teams. Providing ready access to the information about rare diseases, patient advocacy groups, research studies and products in research protocols will continue to improve the lives of patients and their families. Many scientists, public and private sector organizations, patient advocacy groups, foundations, and the pharmaceutical, biotechnology, and medical devices industries are committed to translating research discoveries that will be useful in the care of patients with rare diseases over their lifespan. Evidence from well constructed epidemiological studies will provide the evidence that point to the value of additional clinical studies to increase the understanding of rare diseases.
References
Centres of Reference for Rare Diseases in Europe: State-of-the art in 2006 and recommendations of the Rare Diseases Task Force. A technical and scientific report from an expert group of the European Union Rare Diseases Task Force. Available from: http://ec.europa.eu/health/ph_threats/non_com/docs/contribution_policy.pdf, Accessed: June 2010
Eurordis. EurordisCare2: survey of diagnostic delays, 8 diseases, Europe. http://www.eurordis.org/big_article.php3?id_article=454, Accessed: June 2010
Guttmacher AE, Collins FS, Carmona RH (2004) The family history – more important than ever. NEJM, November; 351:22.
National Library of Medicine Programs and Services at http://www.nlm.nih.gov/ocpl/anreports/fy2008.pdf, Accessed: June 2010
NIH Announces Expansion of Rare Diseases Clinical Research Network. Press Release, NIH News, 2009 October. http://www.nih.gov/news/health/oct2009/od-05.htm, Accessed: June 2010
Proposal for a Directive of the European Parliament and of the Council on the application of patients’ rights in cross-border healthcare. Available from: http://ec.europa.eu/health/ph_overview/co_operation/healthcare/cross-border_healthcare_en.htm, Accessed: June 2010
Taruscio D (2009) Rare diseases in public health. Italian J Public Health, Year 7, 6:4.
Tse T, Williams RJ, Zarin DA (2009) Reporting “basic results” in ClinicalTrials.gov. Chest July; 136(1):295–303.
World Health Organization (WHO). Web site on the International Classification of Diseases. Available from: http://www.who.int/classifications/icd/en/index.html, Accessed: June 2010
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Groft, S.C., de la Paz, M.P. (2010). Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_1
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DOI: https://doi.org/10.1007/978-90-481-9485-8_1
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