Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.

Artificial Intelligence Congenital Disorders of Glycosylation / drug therapy Family Glycosylation Humans Patient Participation
Congenital disorder(s) of glycosylation (CDG) Drug development Electronic (e-)survey Patient-reported outcome measures People-centricity

Journal

Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602

Informations de publication

Date de publication:
30 07 2022
Historique:
received: 27 04 2022
accepted: 17 07 2022
entrez: 30 7 2022
pubmed: 31 7 2022
medline: 3 8 2022
Statut: epublish

Résumé

Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical/scientific and patient communities. Hence, CDG drug development is a popular research topic. The main aim of this study was to understand current and steer future CDG drug development and approval by collecting and analysing the views and experiences of the CDG community, encompassing professionals and families. An electronic (e-)survey was developed and distributed to achieve this goal. A total of 128 respondents (46 CDG professionals and 82 family members), mainly from Europe and the USA, participated in this study. Most professionals (95.0%) were relatively familiar with drug development and approval processes, while CDG families revealed low familiarity levels, with 8.5% admitting to never having heard about drug development. However, both stakeholder groups agreed that patients and families make significant contributions to drug development and approval. Regarding their perceptions of and experiences with specific drug development and approval tools, namely biobanks, disease models, patient registries, natural history studies (NHS) and clinical trials (CT), the CDG community stakeholders described low use and participation, as well as variable familiarity. Additionally, CDG professionals and families shared conflicting views about CT patient engagement and related information sharing. Families reported lower levels of involvement in CT design (25.0% declared ever being involved) and information (60.0% stated having been informed) compared to professionals (60.0% and 85.7%, respectively). These contrasting perceptions were further extended to their insights and experiences with patient-centric research. Finally, the CDG community (67.4% of professionals and 54.0% of families) reported a positive vision of artificial intelligence (AI) as a drug development tool. Nevertheless, despite the high AI awareness among CDG families (76.8%), professionals described limited AI use in their research (23.9%). This community-centric study sheds new light on CDG drug development and approval. It identifies educational, communication and research gaps and opportunities for CDG professionals and families that could improve and accelerate CDG therapy development.

Sections du résumé

BACKGROUND
Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical/scientific and patient communities. Hence, CDG drug development is a popular research topic. The main aim of this study was to understand current and steer future CDG drug development and approval by collecting and analysing the views and experiences of the CDG community, encompassing professionals and families. An electronic (e-)survey was developed and distributed to achieve this goal.
RESULTS
A total of 128 respondents (46 CDG professionals and 82 family members), mainly from Europe and the USA, participated in this study. Most professionals (95.0%) were relatively familiar with drug development and approval processes, while CDG families revealed low familiarity levels, with 8.5% admitting to never having heard about drug development. However, both stakeholder groups agreed that patients and families make significant contributions to drug development and approval. Regarding their perceptions of and experiences with specific drug development and approval tools, namely biobanks, disease models, patient registries, natural history studies (NHS) and clinical trials (CT), the CDG community stakeholders described low use and participation, as well as variable familiarity. Additionally, CDG professionals and families shared conflicting views about CT patient engagement and related information sharing. Families reported lower levels of involvement in CT design (25.0% declared ever being involved) and information (60.0% stated having been informed) compared to professionals (60.0% and 85.7%, respectively). These contrasting perceptions were further extended to their insights and experiences with patient-centric research. Finally, the CDG community (67.4% of professionals and 54.0% of families) reported a positive vision of artificial intelligence (AI) as a drug development tool. Nevertheless, despite the high AI awareness among CDG families (76.8%), professionals described limited AI use in their research (23.9%).
CONCLUSIONS
This community-centric study sheds new light on CDG drug development and approval. It identifies educational, communication and research gaps and opportunities for CDG professionals and families that could improve and accelerate CDG therapy development.

Identifiants

DOI: 10.1186/s13023-022-02460-0 PMID: 35907899 PMC: PMC9338569
pubmed: 35907899
doi: 10.1186/s13023-022-02460-0
pii: 10.1186/s13023-022-02460-0
pmc: PMC9338569
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

303

Informations de copyright

© 2022. The Author(s).

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Auteurs

Maria Monticelli (M)

Department of Biology, Università degli Studi di Napoli "Federico II", 80126, Naples, Italy.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.

Rita Francisco (R)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. rab.francisco@campus.fct.unl.pt.
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. rab.francisco@campus.fct.unl.pt.
Associate Laboratory i4HB , Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. rab.francisco@campus.fct.unl.pt.

Sandra Brasil (S)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Associate Laboratory i4HB , Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.

Dorinda Marques-da-Silva (D)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
LSRE-LCM - Laboratory of Separation and Reaction Engineering - Laboratory of Catalysis and Materials, Escola Superior de Tecnologia e Gestão, Instituto Politécnico de Leiria, 2411-901, Leiria, Portugal.
ALiCE - Associate Laboratory in Chemical Engineering, Faculty of Engineering, University of Porto, Rua Dr. Roberto Frias, 4200-465, Porto, Portugal.

Tatiana Rijoff (T)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
CDG Swiss Association, Meyrin, Switzerland.

Carlota Pascoal (C)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Associate Laboratory i4HB , Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.

Jaak Jaeken (J)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Department of Development and Regeneration, Centre for Metabolic Diseases, KU Leuven, Leuven, Belgium.

Paula A Videira (PA)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Associate Laboratory i4HB , Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal.

Vanessa Dos Reis Ferreira (V)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.
ORCID: 0000-0002-0696-2169

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Méthodologies informatiques › Algorithmes › Intelligence artificielle › Stakeholders' views on drug development: the...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Troubles congénitaux de la glycosylation › Stakeholders' views on drug development: the...
questionsmedicales.fr › Sciences sociales › Sociologie › Facteurs sociologiques › Famille › Stakeholders' views on drug development: the...
questionsmedicales.fr › Métabolisme › Métabolisme glucidique › Glycosylation › Stakeholders' views on drug development: the...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Stakeholders' views on drug development: the...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Prestations des soins de santé › Attitude envers la santé › Adhésion et observance thérapeutiques › Acceptation des soins par les patients › Participation des patients › Stakeholders' views on drug development: the...