A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10362/142751 |
Resumo: | Funding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base. DL57/2016/CP1336/CT0001. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland. |
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A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of GlycosylationCongenital Disorder(s) of Glycosylation (CDG)drug developmentmixed methods researchrare diseasestherapiesthink tanksPollutionPublic Health, Environmental and Occupational HealthHealth, Toxicology and MutagenesisSDG 3 - Good Health and Well-beingFunding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base. DL57/2016/CP1336/CT0001. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&D) for CDG, and to provide future guidance, a community-led mixed methods approach was organized during the 4th World Conference on CDG for Families and Professionals. In the quantitative phase, electronic surveys pointed to the prioritization of six therapeutic R&D tools, namely biobanks, registries, biomarkers, disease models, natural history studies, and clinical trials. Subsequently, in the qualitative phase, the challenges and solutions associated with these research tools were explored through community-driven think tanks. The multiple challenges and solutions identified administrative/regulatory, communication, financial, technical, and biological issues, which are directly related to three fundamental aspects of therapy R&D, namely data, sample, and patient management. An interdependence was traced between the prioritized tools, with diagnosis and therapies acting as bidirectional triggers that fuel these interrelationships. In conclusion, this study’s pioneering and adaptable community-led methodology identified several CDG therapy R&D gaps, many common to other rare diseases, without easy solutions. However, the strong proactive attitude towards research, based on inclusive and international partnerships and involving all members of the CDG community, sets the direction for better future therapy R&D.UCIBIO - Applied Molecular Biosciences UnitDCV - Departamento de Ciências da VidaRUNFrancisco, RitaBrasil, SandraPascoal, CarlotaEdmondson, Andrew C.Jaeken, JaakVideira, Paula A.de Freitas, CláudiaDos Reis Ferreira, VanessaMarques-Da-Silva, Dorinda2022-08-01T22:24:28Z2022-06-022022-06-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article19application/pdfhttp://hdl.handle.net/10362/142751eng1661-7827PURE: 45313628https://doi.org/10.3390/ijerph19116829info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:20:36Zoai:run.unl.pt:10362/142751Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:50:29.656905Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
title |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
spellingShingle |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation Francisco, Rita Congenital Disorder(s) of Glycosylation (CDG) drug development mixed methods research rare diseases therapies think tanks Pollution Public Health, Environmental and Occupational Health Health, Toxicology and Mutagenesis SDG 3 - Good Health and Well-being |
title_short |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
title_full |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
title_fullStr |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
title_full_unstemmed |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
title_sort |
A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation |
author |
Francisco, Rita |
author_facet |
Francisco, Rita Brasil, Sandra Pascoal, Carlota Edmondson, Andrew C. Jaeken, Jaak Videira, Paula A. de Freitas, Cláudia Dos Reis Ferreira, Vanessa Marques-Da-Silva, Dorinda |
author_role |
author |
author2 |
Brasil, Sandra Pascoal, Carlota Edmondson, Andrew C. Jaeken, Jaak Videira, Paula A. de Freitas, Cláudia Dos Reis Ferreira, Vanessa Marques-Da-Silva, Dorinda |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
UCIBIO - Applied Molecular Biosciences Unit DCV - Departamento de Ciências da Vida RUN |
dc.contributor.author.fl_str_mv |
Francisco, Rita Brasil, Sandra Pascoal, Carlota Edmondson, Andrew C. Jaeken, Jaak Videira, Paula A. de Freitas, Cláudia Dos Reis Ferreira, Vanessa Marques-Da-Silva, Dorinda |
dc.subject.por.fl_str_mv |
Congenital Disorder(s) of Glycosylation (CDG) drug development mixed methods research rare diseases therapies think tanks Pollution Public Health, Environmental and Occupational Health Health, Toxicology and Mutagenesis SDG 3 - Good Health and Well-being |
topic |
Congenital Disorder(s) of Glycosylation (CDG) drug development mixed methods research rare diseases therapies think tanks Pollution Public Health, Environmental and Occupational Health Health, Toxicology and Mutagenesis SDG 3 - Good Health and Well-being |
description |
Funding: the project LA/P/0140/2020 of the Associate Laboratory Institute for Health and Bioeconomy—i4HB and the project LA/P/0045/2020 of the Associate Laboratory in Chemical Engineering (ALiCE), the Base. DL57/2016/CP1336/CT0001. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-08-01T22:24:28Z 2022-06-02 2022-06-02T00:00:00Z |
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.uri.fl_str_mv |
http://hdl.handle.net/10362/142751 |
url |
http://hdl.handle.net/10362/142751 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1661-7827 PURE: 45313628 https://doi.org/10.3390/ijerph19116829 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
19 application/pdf |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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