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Utility of rare disease registries in Latin America

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dc.creatorMartins A.M.spa
dc.creatorKerstenezky M.spa
dc.creatorLinares A.spa
dc.creatorPolitei J.spa
dc.creatorKohan R.spa
dc.creatorOspina S.spa
dc.creatorVaras C.spa
dc.creatorVillalobos J.spa
dc.creatorAmartino H.spa
dc.creatorFranco S.spa
dc.creatorValadez G.spa
dc.creatorGiugliani R.spa
dc.creatorGuerra P.spa
dc.creatorSanches L.spa
dc.date.accessioned2020-05-25T23:56:16Z
dc.date.available2020-05-25T23:56:16Z
dc.date.created2011spa
dc.description.abstractThere are many registries in Latin America as dialysis and kidney transplantation, breast cancer, primary immune deficiency, acute coronary syndromes, but the focus here are the registries of lysosomal storage diseases (LSD) because is our experience. Registry of Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis type I are comprehensive observational voluntary programs that aim to collect clinical and laboratory data of initiation, progression, and evolution of those diseases, with and without treatment, using questionnaires of quality of life and/or skills and functions. There are two more programs of LSD: Hunter outcome survey and Fabry outcome survey. The registries are a kind of phase IV clinical trials, post marketing studies delineate additional information including the drug’s risks, benefits, and optimal use, and in addition we have data from natural history. The demographics of the Gaucher, Fabry, MPS I, and Pompe Registries show that a total of patients, being 16%, 8%, 15%, and 7%, respectively, of this population, and 19%, 19%, 18%, and 13%, respectively, of all physicians participating in the program are from Latin America. In the Gaucher Registry, we can observe that the percentage of children in Latin America (29%) is bigger than the rest of the world (20%), what can mean more severe disease in this population. These diseases are rare, and a database of clinical data from a larger number of patients gives us the opportunity to know about the natural history of these diseases, their phenotypic variability, and the response to specific enzyme replacement therapy in our population. © SSIEM and Springer-Verlag Berlin Heidelberg 2011.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/8904_2011_25
dc.identifier.issn01418955
dc.identifier.issn15732665
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22380
dc.language.isoengspa
dc.publisherKluwer Academic Publishersspa
dc.relation.citationEndPage115
dc.relation.citationStartPage111
dc.relation.citationTitleJournal of Inherited Metabolic Disease
dc.relation.citationVolumeVol. 1
dc.relation.ispartofJournal of Inherited Metabolic Disease, ISSN:01418955, 15732665, Vol.1,(2011); pp. 111-115spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84896700950&doi=10.1007%2f8904_2011_25&partnerID=40&md5=2406985398ca556d462a878523059de8spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordDisease registriesspa
dc.subject.keywordFabry registryspa
dc.subject.keywordGaucherregistryspa
dc.subject.keywordLatin America diseases registriesspa
dc.subject.keywordMucoolisac charidosis I registryspa
dc.subject.keywordPompe registryspa
dc.titleUtility of rare disease registries in Latin Americaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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