Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG)
| Autor(a) principal: | |
|---|---|
| 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/10362/151351 |
Resumo: | The authors would like to acknowledge the members of the medical and patient committees for the input, advice and experiences shared for the guidance of this study. Namely, to AM, SP, JP, LR, MC, RF, TR and JB for being part of the patient committee and to JJ, EM, LB, DCo, DCa, CTL, RA, CL and AE for integrating the medical committee. We also want to acknowledge the volunteers from the NOVA Sci & Tech Volunteer program that helped with the organisation of this project. Publisher Copyright: © 2022, The Author(s). |
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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG)listening to what matters for the patients and health professionalsObserver reported outcomesOutcome assessmentPatient reported outcomesPeople-centricityPMM2-CDGQuality of lifeRare diseasesGenetics(clinical)Pharmacology (medical)The authors would like to acknowledge the members of the medical and patient committees for the input, advice and experiences shared for the guidance of this study. Namely, to AM, SP, JP, LR, MC, RF, TR and JB for being part of the patient committee and to JJ, EM, LB, DCo, DCa, CTL, RA, CL and AE for integrating the medical committee. We also want to acknowledge the volunteers from the NOVA Sci & Tech Volunteer program that helped with the organisation of this project. Publisher Copyright: © 2022, The Author(s).Background: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. There are no approved therapies for this condition. Also, there are no validated disease-specific quality of life (QoL) scales to assess the heterogeneous clinical burden of PMM2-CDG which presents a challenge for the assessment of the disease severity and the impact of a certain treatment on the course of the disease. Aim and methods: This study aimed to identify the most impactful clinical signs and symptoms of PMM2-CDG, and specific patient and observer reported outcome measures (PROMs and ObsROMs, respectively) that can adequately measure such impact on patients’ QoL. The most burdensome signs and symptoms were identified through input from the CDG community using a survey targeting PMM2-CDG families and experts, followed by family interviews to understand the real burden of these symptoms in daily life. The list of signs and symptoms was then verified and refined by patient representatives and medical experts in the field. Finally, a literature search for PROMs and ObsROMs used in other rare or common diseases with similar signs and symptoms to those of PMM2-CDG was performed. Results: Twenty-four signs/symptoms were identified as the most impactful throughout PMM2-CDG patients’ lifetime. We found 239 articles that included tools to measure those community-selected PMM2-CDG symptoms. Among them, we identified 80 QoL scales that address those signs and symptoms and, subsequently, their psychometric quality was analysed. These scales could be applied directly to the PMM2-CDG population or adapted to create the first PMM2-CDG-specific QoL questionnaire. Conclusion: Identifying the impactful clinical manifestations of PMM2-CDG, along with the collection of PROMs/ObsROMs assessing QoL using a creative and community-centric methodology are the first step towards the development of a new, tailored, and specific PMM2-CDG QoL questionnaire. These findings can be used to fill a gap in PMM2-CDG clinical development. Importantly, this methodology is transferable to other CDG and rare diseases with multiple signs and symptoms.UCIBIO - Applied Molecular Biosciences UnitDCV - Departamento de Ciências da VidaRUNPascoal, C.Ferreira, I.Teixeira, C.Almeida, E.Slade, A.Brasil, S.Francisco, R.Ligezka, A. N.Morava, E.Plotkin, H.Jaeken, J.Videira, P. A.Barros, L.dos Reis Ferreira, V.2023-03-28T22:22:05Z2022-122022-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article22application/pdfhttp://hdl.handle.net/10362/151351eng1750-1172PURE: 57181951https://doi.org/10.1186/s13023-022-02551-yinfo: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:RCAAP2024-03-11T05:33:47Zoai:run.unl.pt:10362/151351Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:54:33.175871Repositório 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 |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) listening to what matters for the patients and health professionals |
| title |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| spellingShingle |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) Pascoal, C. Observer reported outcomes Outcome assessment Patient reported outcomes People-centricity PMM2-CDG Quality of life Rare diseases Genetics(clinical) Pharmacology (medical) |
| title_short |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| title_full |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| title_fullStr |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| title_full_unstemmed |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| title_sort |
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) |
| author |
Pascoal, C. |
| author_facet |
Pascoal, C. Ferreira, I. Teixeira, C. Almeida, E. Slade, A. Brasil, S. Francisco, R. Ligezka, A. N. Morava, E. Plotkin, H. Jaeken, J. Videira, P. A. Barros, L. dos Reis Ferreira, V. |
| author_role |
author |
| author2 |
Ferreira, I. Teixeira, C. Almeida, E. Slade, A. Brasil, S. Francisco, R. Ligezka, A. N. Morava, E. Plotkin, H. Jaeken, J. Videira, P. A. Barros, L. dos Reis Ferreira, V. |
| author2_role |
author author author author author 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 |
Pascoal, C. Ferreira, I. Teixeira, C. Almeida, E. Slade, A. Brasil, S. Francisco, R. Ligezka, A. N. Morava, E. Plotkin, H. Jaeken, J. Videira, P. A. Barros, L. dos Reis Ferreira, V. |
| dc.subject.por.fl_str_mv |
Observer reported outcomes Outcome assessment Patient reported outcomes People-centricity PMM2-CDG Quality of life Rare diseases Genetics(clinical) Pharmacology (medical) |
| topic |
Observer reported outcomes Outcome assessment Patient reported outcomes People-centricity PMM2-CDG Quality of life Rare diseases Genetics(clinical) Pharmacology (medical) |
| description |
The authors would like to acknowledge the members of the medical and patient committees for the input, advice and experiences shared for the guidance of this study. Namely, to AM, SP, JP, LR, MC, RF, TR and JB for being part of the patient committee and to JJ, EM, LB, DCo, DCa, CTL, RA, CL and AE for integrating the medical committee. We also want to acknowledge the volunteers from the NOVA Sci & Tech Volunteer program that helped with the organisation of this project. Publisher Copyright: © 2022, The Author(s). |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022-12 2022-12-01T00:00:00Z 2023-03-28T22:22:05Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
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publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/151351 |
| url |
http://hdl.handle.net/10362/151351 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
1750-1172 PURE: 57181951 https://doi.org/10.1186/s13023-022-02551-y |
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info:eu-repo/semantics/openAccess |
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openAccess |
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22 application/pdf |
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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 |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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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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