Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases
The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to do...
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| Veröffentlicht in: | Prion 2015-03, Vol.9 (2), p.75-79 |
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| creator | Forloni, Gianluigi Tettamanti, Mauro Lucca, Ugo Albanese, Yasmin Quaglio, Elena Chiesa, Roberto Erbetta, Alessandra Villani, Flavio Redaelli, Veronica Tagliavini, Fabrizio Artuso, Vladimiro Roiter, Ignazio |
| description | The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients. |
| doi_str_mv | 10.1080/19336896.2015.1027857 |
| format | Article |
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At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients.</description><identifier>ISSN: 1933-6896</identifier><identifier>EISSN: 1933-690X</identifier><identifier>DOI: 10.1080/19336896.2015.1027857</identifier><identifier>PMID: 25996399</identifier><language>eng</language><publisher>United States: Taylor & Francis</publisher><subject>Adult ; Clinical Trials as Topic ; doxycycline ; Doxycycline - therapeutic use ; Humans ; Insomnia, Fatal Familial - drug therapy ; Insomnia, Fatal Familial - genetics ; Insomnia, Fatal Familial - prevention & control ; Middle Aged ; neurodegeneration ; preventive treatment in FFI ; Prion's diseases ; trial ; View</subject><ispartof>Prion, 2015-03, Vol.9 (2), p.75-79</ispartof><rights>Copyright © Taylor & Francis Group, LLC 2015</rights><rights>Copyright © Taylor & Francis Group, LLC 2015 Taylor & Francis Group, LLC</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c468t-4580e8e59d4db11a94d61ca48bf17e49e64fb913a49ef3c6906f95226ce4c55c3</citedby><cites>FETCH-LOGICAL-c468t-4580e8e59d4db11a94d61ca48bf17e49e64fb913a49ef3c6906f95226ce4c55c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601344/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601344/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25996399$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Forloni, Gianluigi</creatorcontrib><creatorcontrib>Tettamanti, Mauro</creatorcontrib><creatorcontrib>Lucca, Ugo</creatorcontrib><creatorcontrib>Albanese, Yasmin</creatorcontrib><creatorcontrib>Quaglio, Elena</creatorcontrib><creatorcontrib>Chiesa, Roberto</creatorcontrib><creatorcontrib>Erbetta, Alessandra</creatorcontrib><creatorcontrib>Villani, Flavio</creatorcontrib><creatorcontrib>Redaelli, Veronica</creatorcontrib><creatorcontrib>Tagliavini, Fabrizio</creatorcontrib><creatorcontrib>Artuso, Vladimiro</creatorcontrib><creatorcontrib>Roiter, Ignazio</creatorcontrib><title>Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases</title><title>Prion</title><addtitle>Prion</addtitle><description>The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients.</description><subject>Adult</subject><subject>Clinical Trials as Topic</subject><subject>doxycycline</subject><subject>Doxycycline - therapeutic use</subject><subject>Humans</subject><subject>Insomnia, Fatal Familial - drug therapy</subject><subject>Insomnia, Fatal Familial - genetics</subject><subject>Insomnia, Fatal Familial - prevention & control</subject><subject>Middle Aged</subject><subject>neurodegeneration</subject><subject>preventive treatment in FFI</subject><subject>Prion's diseases</subject><subject>trial</subject><subject>View</subject><issn>1933-6896</issn><issn>1933-690X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU1vEzEQhi0Eoh_wE0A-ckmx1x9Zc0BUFYVKleihSNysWe-Yuuzawd4Nyr_HIUnVXrjYr8bvvOPRQ8gbzs44a9l7boTQrdFnDeOqlpplq5bPyPG2vtCG_Xh-0NV0RE5KuWdMmaYRL8lRo4zRwphjgjcZ1xinsEZaprnf0BBpmbt7dFOhMNEcyi-aPPUwwVDPMQyhihBLGmOAD_QqxrSGfwGwWuUE7o5OiWbISPtQEAqWV-SFh6Hg6_19Sr5ffr69-Lq4_vbl6uL8euGkbqeFVC3DFpXpZd9xDkb2mjuQbef5EqVBLX1nuIAqvXB1S-2NahrtUDqlnDglH3e5q7kbsXd1sQyDXeUwQt7YBME-fYnhzv5Mays140LKGvBuH5DT7xnLZMdQHA4DRExzsVy3TWuYWm6tamd1OZWS0T-M4cxuEdkDIrtFZPeIat_bx3986DowqYZPO0OIPuUR_qQ89HaCzZCyzxBdKFb8f8ZfnCujTg</recordid><startdate>20150304</startdate><enddate>20150304</enddate><creator>Forloni, Gianluigi</creator><creator>Tettamanti, Mauro</creator><creator>Lucca, Ugo</creator><creator>Albanese, Yasmin</creator><creator>Quaglio, Elena</creator><creator>Chiesa, Roberto</creator><creator>Erbetta, Alessandra</creator><creator>Villani, Flavio</creator><creator>Redaelli, Veronica</creator><creator>Tagliavini, Fabrizio</creator><creator>Artuso, Vladimiro</creator><creator>Roiter, Ignazio</creator><general>Taylor & Francis</general><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></search><sort><creationdate>20150304</creationdate><title>Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases</title><author>Forloni, Gianluigi ; Tettamanti, Mauro ; Lucca, Ugo ; Albanese, Yasmin ; Quaglio, Elena ; Chiesa, Roberto ; Erbetta, Alessandra ; Villani, Flavio ; Redaelli, Veronica ; Tagliavini, Fabrizio ; Artuso, Vladimiro ; Roiter, Ignazio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c468t-4580e8e59d4db11a94d61ca48bf17e49e64fb913a49ef3c6906f95226ce4c55c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Clinical Trials as Topic</topic><topic>doxycycline</topic><topic>Doxycycline - therapeutic use</topic><topic>Humans</topic><topic>Insomnia, Fatal Familial - drug therapy</topic><topic>Insomnia, Fatal Familial - genetics</topic><topic>Insomnia, Fatal Familial - prevention & control</topic><topic>Middle Aged</topic><topic>neurodegeneration</topic><topic>preventive treatment in FFI</topic><topic>Prion's diseases</topic><topic>trial</topic><topic>View</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Forloni, Gianluigi</creatorcontrib><creatorcontrib>Tettamanti, Mauro</creatorcontrib><creatorcontrib>Lucca, Ugo</creatorcontrib><creatorcontrib>Albanese, Yasmin</creatorcontrib><creatorcontrib>Quaglio, Elena</creatorcontrib><creatorcontrib>Chiesa, Roberto</creatorcontrib><creatorcontrib>Erbetta, Alessandra</creatorcontrib><creatorcontrib>Villani, Flavio</creatorcontrib><creatorcontrib>Redaelli, Veronica</creatorcontrib><creatorcontrib>Tagliavini, Fabrizio</creatorcontrib><creatorcontrib>Artuso, Vladimiro</creatorcontrib><creatorcontrib>Roiter, Ignazio</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Prion</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Forloni, Gianluigi</au><au>Tettamanti, Mauro</au><au>Lucca, Ugo</au><au>Albanese, Yasmin</au><au>Quaglio, Elena</au><au>Chiesa, Roberto</au><au>Erbetta, Alessandra</au><au>Villani, Flavio</au><au>Redaelli, Veronica</au><au>Tagliavini, Fabrizio</au><au>Artuso, Vladimiro</au><au>Roiter, Ignazio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases</atitle><jtitle>Prion</jtitle><addtitle>Prion</addtitle><date>2015-03-04</date><risdate>2015</risdate><volume>9</volume><issue>2</issue><spage>75</spage><epage>79</epage><pages>75-79</pages><issn>1933-6896</issn><eissn>1933-690X</eissn><abstract>The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. 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| subjects | Adult Clinical Trials as Topic doxycycline Doxycycline - therapeutic use Humans Insomnia, Fatal Familial - drug therapy Insomnia, Fatal Familial - genetics Insomnia, Fatal Familial - prevention & control Middle Aged neurodegeneration preventive treatment in FFI Prion's diseases trial View |
| title | Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases |
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