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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...
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Published in: | Prion 2022-12, Vol.16 (1), p.66-77 |
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creator | 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 |
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. |
doi_str_mv | 10.1080/19336896.2022.2083435 |
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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. 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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.</description><subject>clinical trial</subject><subject>disease incidence</subject><subject>genetic prion diseases</subject><subject>Humans</subject><subject>Insomnia, Fatal Familial - drug therapy</subject><subject>Insomnia, Fatal Familial - genetics</subject><subject>Mutation</subject><subject>patient engagement</subject><subject>Prion Diseases - genetics</subject><subject>Research Paper</subject><subject>tetracyclines</subject><issn>1933-6896</issn><issn>1933-690X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>0YH</sourceid><sourceid>DOA</sourceid><recordid>eNp9kU1vEzEQhlcIREvhJ4B85JLWH-tdLwdEVQGtVAkOIHGzZu1x6uC1g70J6r_HIUlFL1zs0cw778zoaZrXjJ4zqugFG4To1NCdc8p5fZRohXzSnO7yi26gP54e4yo6aV6UsqJUDpyL582JkL3oezmcNuVrxi3G2W-RrO8gT2BSSEtvIJA5I8xTLRIfSdmMKzRzITCT7MtP4lImDuaqczD54GvgY0lT9PCOFOMxGiQQLVlvxuANwbiEJe7sXjbPHISCrw7_WfP908dvV9eL2y-fb64ubxdGinZeAGtZ33FhRccddbRjxvC-t2ykg2pty0fKAVG1g8WaRWos5a1RRjDnpO3FWXOz97UJVnqd_QT5Xifw-m8i5aWGPHsTUI-uHUXHJJeMtSjt0EMdgNKNzsDQq-r1fu9Vr5nQmnpGhvDI9HEl-ju9TFs9cCGVEtXg7cEgp18bLLOefDEYAkRMm6J5pxgVXcVSpXIvNTmVktE9jGFU7-DrI3y9g68P8Gvfm393fOg60q6CD3uBj5XeBL9TDlbPcB9Sdhmi8UWL_8_4A5EmwY8</recordid><startdate>20221231</startdate><enddate>20221231</enddate><creator>Forloni, Gianluigi</creator><creator>Roiter, Ignazio</creator><creator>Artuso, Vladimiro</creator><creator>Marcon, Manuel</creator><creator>Colesso, Walter</creator><creator>Luban, Elviana</creator><creator>Lucca, Ugo</creator><creator>Tettamanti, Mauro</creator><creator>Pupillo, Elisabetta</creator><creator>Redaelli, Veronica</creator><creator>Mariuzzo, Francesco</creator><creator>Boscolo Buleghin, Giulia</creator><creator>Mariuzzo, Alice</creator><creator>Tagliavini, Fabrizio</creator><creator>Chiesa, Roberto</creator><creator>Ambrosini, Anna</creator><general>Taylor & Francis</general><general>Taylor & Francis Group</general><scope>0YH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20221231</creationdate><title>Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement</title><author>Forloni, Gianluigi ; 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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.</abstract><cop>United States</cop><pub>Taylor & Francis</pub><pmid>35737759</pmid><doi>10.1080/19336896.2022.2083435</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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subjects | clinical trial disease incidence genetic prion diseases Humans Insomnia, Fatal Familial - drug therapy Insomnia, Fatal Familial - genetics Mutation patient engagement Prion Diseases - genetics Research Paper tetracyclines |
title | Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement |
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