Реални ползи от приложението на епидемиолoгични регистри в областта на редките болести
Keywords:
епидемиологични регистри, ползи, редки болести
Abstract
Въпреки че редките болести традиционно представляват значителен интерес за клиницистите от диагностична перспектива, те са по-слабо представени по отношение на научните изследвания и епидемиология поради слабото си разпространение. Недостатъчността на данните се дължи най-вече на липсата на епидемиологични регистри на регионално или национално ниво, както и косвено на непълнотата на Международната класификация на болестите, в която огромен брой редки състояния не са описани и нямат собствен код. Епидемологичните регистри могат да дадат основа за разрешаване на тези проблеми чрез събирането както на ретроспективни, така и на проспективни данни.
Цел на настоящата публикация е изтъкването на реалните ползи от прилагането на тези регистри за редки заболявания. Проучена е достъпната научна литература и са реферирани статии, описващи множество ползи. Регистрите могат да са полезни за всички заинтересовани страни, а именно: за пациентите и пациентските организации, търсещи помощ и информация, за инвеститорите, провеждащи проучвания, за клиницистите, лекуващи пациентите, за епидемиолозите, които анализират данните, за фармацевтичните компании, проучващи нови пазари, за здравните власти, взимащи решения за планиране в системата на здравеопазване.
References
Richesson R. L., H. S. Lee, D. Cuthbertson, J. Lloyd, K. Young, J. P. Krischer, An Automated Communication System in a Contact Registry for Persons with Rare Diseases: Scalable Tools for Identifying and Recruiting Clinical Research Participants, Contemp Clin Trials, 2009, 30(1):55-62.
EC, Rare diseases – what are they?, [cited 2015 02/26], http://ec.europa.eu/health/rare_diseases/policy/index_en.htm.
Touitou I., V. Hentgen, I. Kone-Paut, Web resources for rare auto-inflammatory diseases: towards a common patient registry, Rheumatology, 2009, 48:665-669.
Aymé S., J. Schmidtke, Networking for rare diseases: a necessity for Europe, Bundesgesundheitsbl - Gesundheitsforsch - Gesundheitsschutz, 2007, 50:1477-1483.
Trang H., M. Dehan, B. F, I. Zaccaria, J. Amiel, C. Gaultier, The French Congenital Central Hypoventilation Syndrome Registry: General data, phenotype, and genotype, Chest, 2005, 127:72-79.
Stockley R. A., M. Luisetti, M. Miravitlles, E. Piitulainen, P. Fernandez, Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development, Eur Respir J, 2007, 29:582-586.
Laverty A., A. Jaffe, S. Cunningham, Establishment of a Web-Based Registry for Rare (Orphan) Pediatric Lung Diseases in the United Kingdom:The BPOLD Registry, Pediatric Pulmonology, 2008, 43:451-456.
Black N., High-quality clinical databases: breaking down barriers, Lancet, 1999, 353(9160):1205-1206.
Knerr V., B. Grimbacher, Primary immunodeficiency registries, Current Opinion in Allergy and Clinical Immunology, 2007, 7:475-480.
Morgan M., N. Mays, W. Holland, Can hospital use be a measure of need for health care?, J Epidemiol Community Health, 1987, 41:269-274.
Wigertz A., R. Westerling, Measures of prevalence: which healthcare registers are applicable? , Scand J Public Health, 2001, 29:55-62.
Wright J., R. Williams, J. R.Wilkinson, Development and importance of health needs assessment, Br Med J, 1998, 316:1310-1313.
Kole A., C. Rodwell, S. Aymé, Patient Registries in the field of rare dieases: Rare Diseases Task Force, 2009.
Mehta G., E. J. Sims, F. Culross, J. D. McCormick, A. Mehta, Potential benefits of the UK Cystic Fibrosis Database Journal of the Royal Society of Medicine, 2004, 97(44):60-71.
Elm E. v., D. G. Altman, M. Egger, Strengthening The Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies, Brit Med J, 2007, 335:806-808.
Stewart R., M. Soremekun, G. Perera, M. Broadbent, F. Callara, M. Denis, et al., The South London and Maudsley NHS Foundation Trust Biomedical Research Centre (SLAM BRC) case register: development and descriptive data, BMC Psychiatry, 2009, 9(51).
Tilling K., Capture-recapture methods - useful or misleading?, International Journal of Epidemiology, 2001, 30:12-14.
Gliklich R. E., N. A. Dreyer, Registries for Evaluating Patient Outcomes: A User’s Guide. 2nd ed. (Prepared by Outcome DEcIDE Center [Outcome Sciences, Inc. d/b/a Outcome] under Contract No. HHSA29020050035I TO3). Rockville, MD, 2010, Report No.: 10-EHC049.
Thompson J. R., The role of registers in epidemiology: discussion paper, Journal of the Royal Society of Medicine, 1989, 82:151-152.
Pastores G. M., P. Arn, M. Joe, T. R. Clarke, N. GuVon, P. Kaplan, et al., The MPS I registry: Design, methodology, and early Wndings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I, Molecular Genetics and Metabolism, 2007, 91:37-47.
Reitter S., W. Streif, T. Schabetsberger, F. Wozak, H. Hartl, C. Male, et al., Austrian Hemophilia Registry: design, development and set of variables, Wiener klinische Wochenschrift, 2009, (1211):196-201.
Gutierrez L. P., M. Kołtowska-Haggstrom, P. J. Jonsson, A. F. Mattsson, D. Svensson, B. Westberg, et al., Registries as a tool in evidence-based medicine: example of KIMS (Pfizer International Metabolic Database), Pharmacoepidemiology and drug safety, 2008, 17:90-102.
Sipkoff M., Support Grows for Establishing National Clinical Trial Registry, MANAGED CARE, 2005, 14(7):24-26.
Iskrov G., R. Stefanov, Post-marketing access to orphan drugs: a critical analysis of health technology assessment and reimbursement decision-making considerations., Orphan Drugs Res Rev, 2014, (4):1-9.
Rubinstein Y. R., S. C. Groft, K. Brown, R. A. Christensen, E. Collier, A. Farber, et al., Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB), 2010.
Owen A., J. Spinks, A. Meehan, A new model to evaluate the long-term cost effectiveness of orphan and highly specialised drugs following listing on the Australian Pharmaceutical Benefits Scheme: the Bosentan Patient Registry., J Med Econ, 2008, 11(2):235-243.
Drolet B. C., K. B. Johnson, Categorizing the world of registries, Journal of Biomedical Informatics, 2008, 41:1009-1020.
Singer R. B., Cystic fibrosis mortality: registry data of cystic fibrosis, Insur Med, 1997, 29(4):233-239.
McCormick J., E. J. Sims, M. W. Green, G. Mehta, F. Culross, A. Mehta, Comparative analysis of Cystic Fibrosis Registry data from the UK with USA, France and Australasia, Journal of Cystic Fibrosis, 2005, 4:115-122.
Andersen L. V., L. S. Mortensen, J. S. Lindholt, O. Faergeman, E. W. Henneberg, L. Frost, Completeness and positive predictive value of registration of upper limb embolectomy in the Danish National Vascular Registry, Clinical Epidemiology, 2009, 1:27-32.
Koch C., International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF). Pediatr Pulmonol, 1997, 24(2):147-154.
Muir C. S., E. Demaret, P. Boyle, The cancer registry in cancer control: an overview., IARC Scientifi c Publications, 1985, 66:13–26.
EC, Rare diseases – what are they?, [cited 2015 02/26], http://ec.europa.eu/health/rare_diseases/policy/index_en.htm.
Touitou I., V. Hentgen, I. Kone-Paut, Web resources for rare auto-inflammatory diseases: towards a common patient registry, Rheumatology, 2009, 48:665-669.
Aymé S., J. Schmidtke, Networking for rare diseases: a necessity for Europe, Bundesgesundheitsbl - Gesundheitsforsch - Gesundheitsschutz, 2007, 50:1477-1483.
Trang H., M. Dehan, B. F, I. Zaccaria, J. Amiel, C. Gaultier, The French Congenital Central Hypoventilation Syndrome Registry: General data, phenotype, and genotype, Chest, 2005, 127:72-79.
Stockley R. A., M. Luisetti, M. Miravitlles, E. Piitulainen, P. Fernandez, Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development, Eur Respir J, 2007, 29:582-586.
Laverty A., A. Jaffe, S. Cunningham, Establishment of a Web-Based Registry for Rare (Orphan) Pediatric Lung Diseases in the United Kingdom:The BPOLD Registry, Pediatric Pulmonology, 2008, 43:451-456.
Black N., High-quality clinical databases: breaking down barriers, Lancet, 1999, 353(9160):1205-1206.
Knerr V., B. Grimbacher, Primary immunodeficiency registries, Current Opinion in Allergy and Clinical Immunology, 2007, 7:475-480.
Morgan M., N. Mays, W. Holland, Can hospital use be a measure of need for health care?, J Epidemiol Community Health, 1987, 41:269-274.
Wigertz A., R. Westerling, Measures of prevalence: which healthcare registers are applicable? , Scand J Public Health, 2001, 29:55-62.
Wright J., R. Williams, J. R.Wilkinson, Development and importance of health needs assessment, Br Med J, 1998, 316:1310-1313.
Kole A., C. Rodwell, S. Aymé, Patient Registries in the field of rare dieases: Rare Diseases Task Force, 2009.
Mehta G., E. J. Sims, F. Culross, J. D. McCormick, A. Mehta, Potential benefits of the UK Cystic Fibrosis Database Journal of the Royal Society of Medicine, 2004, 97(44):60-71.
Elm E. v., D. G. Altman, M. Egger, Strengthening The Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies, Brit Med J, 2007, 335:806-808.
Stewart R., M. Soremekun, G. Perera, M. Broadbent, F. Callara, M. Denis, et al., The South London and Maudsley NHS Foundation Trust Biomedical Research Centre (SLAM BRC) case register: development and descriptive data, BMC Psychiatry, 2009, 9(51).
Tilling K., Capture-recapture methods - useful or misleading?, International Journal of Epidemiology, 2001, 30:12-14.
Gliklich R. E., N. A. Dreyer, Registries for Evaluating Patient Outcomes: A User’s Guide. 2nd ed. (Prepared by Outcome DEcIDE Center [Outcome Sciences, Inc. d/b/a Outcome] under Contract No. HHSA29020050035I TO3). Rockville, MD, 2010, Report No.: 10-EHC049.
Thompson J. R., The role of registers in epidemiology: discussion paper, Journal of the Royal Society of Medicine, 1989, 82:151-152.
Pastores G. M., P. Arn, M. Joe, T. R. Clarke, N. GuVon, P. Kaplan, et al., The MPS I registry: Design, methodology, and early Wndings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I, Molecular Genetics and Metabolism, 2007, 91:37-47.
Reitter S., W. Streif, T. Schabetsberger, F. Wozak, H. Hartl, C. Male, et al., Austrian Hemophilia Registry: design, development and set of variables, Wiener klinische Wochenschrift, 2009, (1211):196-201.
Gutierrez L. P., M. Kołtowska-Haggstrom, P. J. Jonsson, A. F. Mattsson, D. Svensson, B. Westberg, et al., Registries as a tool in evidence-based medicine: example of KIMS (Pfizer International Metabolic Database), Pharmacoepidemiology and drug safety, 2008, 17:90-102.
Sipkoff M., Support Grows for Establishing National Clinical Trial Registry, MANAGED CARE, 2005, 14(7):24-26.
Iskrov G., R. Stefanov, Post-marketing access to orphan drugs: a critical analysis of health technology assessment and reimbursement decision-making considerations., Orphan Drugs Res Rev, 2014, (4):1-9.
Rubinstein Y. R., S. C. Groft, K. Brown, R. A. Christensen, E. Collier, A. Farber, et al., Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB), 2010.
Owen A., J. Spinks, A. Meehan, A new model to evaluate the long-term cost effectiveness of orphan and highly specialised drugs following listing on the Australian Pharmaceutical Benefits Scheme: the Bosentan Patient Registry., J Med Econ, 2008, 11(2):235-243.
Drolet B. C., K. B. Johnson, Categorizing the world of registries, Journal of Biomedical Informatics, 2008, 41:1009-1020.
Singer R. B., Cystic fibrosis mortality: registry data of cystic fibrosis, Insur Med, 1997, 29(4):233-239.
McCormick J., E. J. Sims, M. W. Green, G. Mehta, F. Culross, A. Mehta, Comparative analysis of Cystic Fibrosis Registry data from the UK with USA, France and Australasia, Journal of Cystic Fibrosis, 2005, 4:115-122.
Andersen L. V., L. S. Mortensen, J. S. Lindholt, O. Faergeman, E. W. Henneberg, L. Frost, Completeness and positive predictive value of registration of upper limb embolectomy in the Danish National Vascular Registry, Clinical Epidemiology, 2009, 1:27-32.
Koch C., International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF). Pediatr Pulmonol, 1997, 24(2):147-154.
Muir C. S., E. Demaret, P. Boyle, The cancer registry in cancer control: an overview., IARC Scientifi c Publications, 1985, 66:13–26.
Published
2017-06-15
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Митева-Катранджиева Ц. Реални ползи от приложението на епидемиолoгични регистри в областта на редките болести. Редки болести и лекарства сираци [Internet]. 2017Jun.15 [cited 2024Dec.21];8(2):8-12. Available from: https://journal.raredis.org/index.php/RBLS/article/view/27
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