The Use of Registries in Primary Immunodeficiencies: An Example of Rare Diseases

• Autorzy: Ewa Więsik-Szewczyk , Karina Jahnz-Różyk , Aleksandra Kucharczyk
• Języki publikacji: EN

Abstrakty

EN

In the field of rare diseases, data on a significant number of patients can only be archived due to national and international collaboration. Data summarized from specialized centers are a powerful tool. Thanks to modern technology and networks, national and international databases can be constructed legally, with respect to ethical and safety principles. Currently registries for primary immunodeficiencies are established on different levels: single center, national collaboration involving specialized tertiary centers on the country level and on international level as for example ESID registry. Not all registries cover the same dataset, but generally allow to estimate prevalence of diseases, description of natural history, morbidity and mortality. Moreover registries can provide information of diagnostic criteria used, quality of care and management modalities. In the field of primary humoral immunodeficiencies is crucial to assess availability of immunoglobulin G substitution and to plan demand for this product. In other ultra-rare primary immunodeficiencies registries are the unique opportunity to compare different treatment interventions and strategies as hematopoietic stem cell transplantation. The review presents current published data from different registries of primary immunodeficiencies to underscore the need for founding polish registry(original abstract)

Słowa kluczowe

EN

Databases; Illness

PL

Bazy danych; Choroby

• Czasopismo: Journal of Health Policy and Outcomes Research
• Rocznik: 2015
• Numer: nr 1
• Strony: 109--114

Twórcy

autor

Ewa Więsik-Szewczyk

• Military Institute of Medicine in Warsaw

autor

Karina Jahnz-Różyk

• Military Institute of Medicine in Warsaw

autor

Aleksandra Kucharczyk

• Military Institute of Medicine in Warsaw

Bibliografia

• Richter T. et al.: Rare Disease Terminology and Definitions - A Systematic Global Review, Value in Health, 2014
• Bochenek T. Leki sieroce stosowane w chorobach rzadkich - wyzwanie dla współczesnych systemów opieki zdrowotnej. Nowiny Lekarskie 2013, 82: 338-342
• Chapel H., Prevot J., Gaspar H.B., Español T.et al.; for Editorial Board for Working Party on Principles of Care at IPOPI. Primary immune deficiencies - principles of care. Front Immunol. 2014; 15:1-12
• Al-Herz W., Bousfiha A., Casanova JL., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014; 22:162
• Resnick ES., Moshier EL., Godbold JH., Cunningham-Rundles. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012; 119:1650-1657
• Chapel H., Lucas M., Lee M., et al.: Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112:277-286
• Quinti I., Soresina A., Spadaro G., et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J. Clin. Immunol. 2007; 27:308-316
• Quinti I., Agostini C., Tabolli S., Brunetti G., Cinetto F., Pecoraro A., Spadaro G.: Malignancies are the major cause of death in patients with adult onset common variable immunodeficiency. Blood. 2012; 30; 120:1953-1954
• CEREDIH: The French PID study group. The French national registry of primary immunodeficiency diseases. Clin. Immunol. 2010; 135:264-272
• Gathmann B., Goldacker S., Klima M., et al. The German national registry for primary immunodeficiencies (PID). Clin. Exp. Immunol. 2013; 173:372-380
• Moschese V., Martire B., Soresina A., et al. Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. J Biol Regul Homeost Agents. 2013; 27:935-946
• Quinti I., Soresina A., Guerra A., et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J. Clin. Immunol. 2011; 31:315-322
• Marschall K., Hoernes M., Bitzenhofer-Grüber M., et al. The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years' activity 2008-2014. Clin. Exp .Immunol. 2015 Jun 1; doi: 10.1111/cei.12661. [Epub ahead of print]
• Edgar JD., Buckland M., Guzman D. The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012. Clin. Exp. Immunol. 2014; 175:68-78
• Stonebraker JS., Farrugia A., Gathmann B.; ESID Registry Working Party, Orange J.S. Modeling primary immunodeficiency disease epidemiology and its treatment to estimate latent therapeutic demand for immunoglobulin. J Clin Immunol 2014; 34:233-244
• Gathmann B., Binder N., Ehl S., Kindle G.; ESID Registry Working Party. The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin. Exp. Immunol. 2011; 167:479-491
• Kindle G., Gathmann B., Grimbacher B. The use of databases in primary immunodeficiencies. Curr. Opin. Allergy Clin. Immunol. 2014; 14:501-508
• Condino-Neto A. The relevance of collaborative work: the Latin American Society for Immunodeficiencies (LASID) registry model. Clin. Exp. Immunol. 2014; 178:16-17S
• Sullivan KE., Puck JM., Notarangelo LD. USIDNET: a strategy to build a community of clinical immunologists. J Clin. Immunol. 2014; 34:428-435

Identyfikatory

DOI

10.7365/JHPOR.2015.1.11