Cargando…

Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement

Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists a...

Descripción completa

Detalles Bibliográficos
Autores principales: Forloni, Gianluigi, Roiter, Ignazio, Artuso, Vladimiro, Marcon, Manuel, Colesso, Walter, Luban, Elviana, Lucca, Ugo, Tettamanti, Mauro, Pupillo, Elisabetta, Redaelli, Veronica, Mariuzzo, Francesco, Boscolo Buleghin, Giulia, Mariuzzo, Alice, Tagliavini, Fabrizio, Chiesa, Roberto, Ambrosini, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235883/
https://www.ncbi.nlm.nih.gov/pubmed/35737759
http://dx.doi.org/10.1080/19336896.2022.2083435
_version_ 1784736414026432512
author Forloni, Gianluigi
Roiter, Ignazio
Artuso, Vladimiro
Marcon, Manuel
Colesso, Walter
Luban, Elviana
Lucca, Ugo
Tettamanti, Mauro
Pupillo, Elisabetta
Redaelli, Veronica
Mariuzzo, Francesco
Boscolo Buleghin, Giulia
Mariuzzo, Alice
Tagliavini, Fabrizio
Chiesa, Roberto
Ambrosini, Anna
author_facet Forloni, Gianluigi
Roiter, Ignazio
Artuso, Vladimiro
Marcon, Manuel
Colesso, Walter
Luban, Elviana
Lucca, Ugo
Tettamanti, Mauro
Pupillo, Elisabetta
Redaelli, Veronica
Mariuzzo, Francesco
Boscolo Buleghin, Giulia
Mariuzzo, Alice
Tagliavini, Fabrizio
Chiesa, Roberto
Ambrosini, Anna
author_sort Forloni, Gianluigi
collection PubMed
description Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists and members of a large family at genetic risk of very rare lethal disease, fatal familial insomnia (FFI). This interaction led to a clinical trial based on the repurposing of doxycycline – an antibiotic with a known safety profile and optimal blood–brain barrier passage – which in numerous preclinical and clinical studies had given evidence of its potential therapeutic effect in neurodegenerative disorders, including prion diseases like FFI. The design of this trial posed several challenges, which were addressed jointly by the scientists and the FFI family. Potential participants excluded the possibility of being informed of their own FFI genotype; thus, the trial design had to include both carriers of the FFI mutation (10 subjects), and non-carriers (15 subjects), who were given placebo. Periodic clinical controls were performed on both groups by blinded examiners. The lack of surrogate outcome measures of treatment efficacy has required to compare the incidence of the disease in the treated group with a historical dataset during 10 years of observation. The trial is expected to end in 2023. Regardless of the clinical outcome, it will provide worthwhile knowledge on the disease. It also offers an important example of public engagement and collaboration to improve the quality of clinical science.
format Online
Article
Text
id pubmed-9235883
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Taylor & Francis
record_format MEDLINE/PubMed
spelling pubmed-92358832022-06-28 Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement Forloni, Gianluigi Roiter, Ignazio Artuso, Vladimiro Marcon, Manuel Colesso, Walter Luban, Elviana Lucca, Ugo Tettamanti, Mauro Pupillo, Elisabetta Redaelli, Veronica Mariuzzo, Francesco Boscolo Buleghin, Giulia Mariuzzo, Alice Tagliavini, Fabrizio Chiesa, Roberto Ambrosini, Anna Prion Research Paper Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists and members of a large family at genetic risk of very rare lethal disease, fatal familial insomnia (FFI). This interaction led to a clinical trial based on the repurposing of doxycycline – an antibiotic with a known safety profile and optimal blood–brain barrier passage – which in numerous preclinical and clinical studies had given evidence of its potential therapeutic effect in neurodegenerative disorders, including prion diseases like FFI. The design of this trial posed several challenges, which were addressed jointly by the scientists and the FFI family. Potential participants excluded the possibility of being informed of their own FFI genotype; thus, the trial design had to include both carriers of the FFI mutation (10 subjects), and non-carriers (15 subjects), who were given placebo. Periodic clinical controls were performed on both groups by blinded examiners. The lack of surrogate outcome measures of treatment efficacy has required to compare the incidence of the disease in the treated group with a historical dataset during 10 years of observation. The trial is expected to end in 2023. Regardless of the clinical outcome, it will provide worthwhile knowledge on the disease. It also offers an important example of public engagement and collaboration to improve the quality of clinical science. Taylor & Francis 2022-06-23 /pmc/articles/PMC9235883/ /pubmed/35737759 http://dx.doi.org/10.1080/19336896.2022.2083435 Text en © 2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Paper
Forloni, Gianluigi
Roiter, Ignazio
Artuso, Vladimiro
Marcon, Manuel
Colesso, Walter
Luban, Elviana
Lucca, Ugo
Tettamanti, Mauro
Pupillo, Elisabetta
Redaelli, Veronica
Mariuzzo, Francesco
Boscolo Buleghin, Giulia
Mariuzzo, Alice
Tagliavini, Fabrizio
Chiesa, Roberto
Ambrosini, Anna
Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title_full Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title_fullStr Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title_full_unstemmed Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title_short Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
title_sort preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235883/
https://www.ncbi.nlm.nih.gov/pubmed/35737759
http://dx.doi.org/10.1080/19336896.2022.2083435
work_keys_str_mv AT forlonigianluigi preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT roiterignazio preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT artusovladimiro preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT marconmanuel preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT colessowalter preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT lubanelviana preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT luccaugo preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT tettamantimauro preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT pupilloelisabetta preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT redaelliveronica preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT mariuzzofrancesco preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT boscolobuleghingiulia preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT mariuzzoalice preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT tagliavinifabrizio preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT chiesaroberto preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement
AT ambrosinianna preventivepharmacologicaltreatmentinsubjectsatriskforfatalfamilialinsomniascienceandpublicengagement