A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation

Detalhes bibliográficos
Autor(a) principal: Francisco, Rita
Data de Publicação: 2022
Outros Autores: Brasil, Sandra, Pascoal, Carlota, Edmondson, Andrew C., Jaeken, Jaak, Videira, Paula A., de Freitas, Cláudia, Dos Reis Ferreira, Vanessa, Marques-Da-Silva, Dorinda
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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spelling 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
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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