Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies

Detalhes bibliográficos
Autor(a) principal: Fano, Virginia
Data de Publicação: 2022
Outros Autores: Kim, Chong A., Rosselli, Pablo, El Dib, Regina, Shediac, Renée, Magalhães, Tatiana, Mesojedovas, Debora, Llerena Junior, Juan
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/55045
Resumo: Biomarin Farmaceutica LTDA
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spelling Fano, VirginiaKim, Chong A.Rosselli, PabloEl Dib, ReginaShediac, RenéeMagalhães, TatianaMesojedovas, DeboraLlerena Junior, Juan2022-10-07T13:18:42Z2022-10-07T13:18:42Z2022FANO, Virginia et al. Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies. Orphanet Journal of Rare Diseases, v. 17, n. 4, p. 1-28, 4 Jan. 2022.1750-1172https://www.arca.fiocruz.br/handle/icict/5504510.1186/s13023-021-02142-31750-1172Biomarin Farmaceutica LTDAHospital de Pediatría “Prof. Dr. Juan P. Garrahan”. Buenos Aires, Argentina.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Instituto da Criança e do Adolescente. São Paulo, SP, Brasil.Fundacion Cardioinfantil-Instituto de Cardiologia. Bogotá, Colombia.Universidade Estadual Paulista "Júlio de Mesquita Filho". Instituto de Ciência e Tecnologia. Departamento de Biociências e Diagnóstico Bucal. São José dos Campos, SP, Brasil.BioMarin Pharmaceutical Inc. Novato, CA, USA.BioMarin Farmaceutica LTDA. Medical Affairs Latin America. São Paulo, SP, Brasil.BioMarin Farmaceutica LTDA. Medical Affairs Latin America. São Paulo, SP, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Background: Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fbroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the frst step in planning cost-efective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic diferences. We conducted a systematic literature review to characterize the impact of ACH on afected individuals and on healthcare resources in LATAM countries. Methods: Searches of the global medical literature as well as regional and local medical literature up to August 2020. Observational studies on patients with ACH from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results: Fifty-three unique studies (28 case series and cross-sectional studies and 25 case reports) including data on 1604 patients were eligible. Of these studies, 11 had data available for meta-analysis. Both premature mortality and all-cause mortality in the pooled studies was 15% [95% Confdence Interval (CI) 1.0E−3 to 0.47; I²=82.9%, p=0.0029; three studies, n=99 patients]. Frequency of cardio-respiratory-metabolic disorders was 17% [95% CI 0.04–0.37; I²=90.3%, p<0.0001; four studies, n=230 patients]; nervous system disorders was 18% [95% CI 0.07–0.33; I²=84.6%, p<0.0001; six studies, n=262 patients]; ear, nose, throat and speech disorders was 32% [95% CI 0.18–0.48; I²=73.4%, p=0.0046; fve studies, n=183 patients]; and spinal issues including stenosis, compression and associated pain was 24% [95% CI 0.07–0.47; I²=91.3%, p<0.0001; fve studies, n=235 patients]. Conclusions: There is currently evidence of high clinical burden in ACH patients in LATAM countries. Establishing the impact of ACH provides the necessary foundation for planning tailored and efective public health interventions.engBMCImpact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studiesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleAchondroplasiaSkeletal dysplasiaLatin Americainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/55045/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALImpact of achondroplasia on Latin American patients - a systematic review and meta-analysis of observational studies.pdfImpact of achondroplasia on Latin American patients - a systematic review and meta-analysis of observational studies.pdfapplication/pdf2672252https://www.arca.fiocruz.br/bitstream/icict/55045/2/Impact%20of%20achondroplasia%20on%20Latin%20American%20patients%20-%20a%20systematic%20review%20and%20meta-analysis%20of%20observational%20studies.pdf70bebfe4727259071f2364e3f602cf48MD52icict/550452022-10-07 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dc.title.en_US.fl_str_mv Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
title Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
spellingShingle Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
Fano, Virginia
Achondroplasia
Skeletal dysplasia
Latin America
title_short Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
title_full Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
title_fullStr Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
title_full_unstemmed Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
title_sort Impact of achondroplasia on Latin American patients: a systematic review and meta‑analysis of observational studies
author Fano, Virginia
author_facet Fano, Virginia
Kim, Chong A.
Rosselli, Pablo
El Dib, Regina
Shediac, Renée
Magalhães, Tatiana
Mesojedovas, Debora
Llerena Junior, Juan
author_role author
author2 Kim, Chong A.
Rosselli, Pablo
El Dib, Regina
Shediac, Renée
Magalhães, Tatiana
Mesojedovas, Debora
Llerena Junior, Juan
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Fano, Virginia
Kim, Chong A.
Rosselli, Pablo
El Dib, Regina
Shediac, Renée
Magalhães, Tatiana
Mesojedovas, Debora
Llerena Junior, Juan
dc.subject.en.en_US.fl_str_mv Achondroplasia
Skeletal dysplasia
Latin America
topic Achondroplasia
Skeletal dysplasia
Latin America
description Biomarin Farmaceutica LTDA
publishDate 2022
dc.date.accessioned.fl_str_mv 2022-10-07T13:18:42Z
dc.date.available.fl_str_mv 2022-10-07T13:18:42Z
dc.date.issued.fl_str_mv 2022
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv FANO, Virginia et al. Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies. Orphanet Journal of Rare Diseases, v. 17, n. 4, p. 1-28, 4 Jan. 2022.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/55045
dc.identifier.issn.en_US.fl_str_mv 1750-1172
dc.identifier.doi.none.fl_str_mv 10.1186/s13023-021-02142-3
dc.identifier.eissn.none.fl_str_mv 1750-1172
identifier_str_mv FANO, Virginia et al. Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies. Orphanet Journal of Rare Diseases, v. 17, n. 4, p. 1-28, 4 Jan. 2022.
1750-1172
10.1186/s13023-021-02142-3
url https://www.arca.fiocruz.br/handle/icict/55045
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/55045/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/55045/2/Impact%20of%20achondroplasia%20on%20Latin%20American%20patients%20-%20a%20systematic%20review%20and%20meta-analysis%20of%20observational%20studies.pdf
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repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
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