Erythropoietin in Friedreich Ataxia: No Effect on Frataxin in a Randomized Controlled Trial
Identifieur interne : 001128 ( Main/Exploration ); précédent : 001127; suivant : 001129Erythropoietin in Friedreich Ataxia: No Effect on Frataxin in a Randomized Controlled Trial
Auteurs : Caterina Mariotti [Italie] ; Roberto Fancellu [Italie] ; Serena Caldarazzo [Italie] ; Lorenzo Nanetti [Italie] ; Daniela Di Bella [Italie] ; Massimo Plumari [Italie] ; Giuseppe Lauria [Italie] ; Maria D. Cappellini [Italie] ; Lorena Duca [Italie] ; Alessandra Solari [Italie] ; Franco Taroni [Italie]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Background: Friedreich ataxia is a rare disease caused by GAA-trinucleotide-repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia. Methods: We performed a 6-month, randomized placebo-controlled, double-blind, dose-response pilot trial to assess the safety and efficacy of erythropoietin in increasing frataxin levels. Sixteen adult patient with Friedreich ataxia were randomly assigned to erythropoietin (n = 11) or matching placebo (n = 5). All patients continued Idebenone treatment (5 mg/kg/day). Treatment consisted of a 6-month scaling-up phase, in which erythropoietin was administered intravenously at the following doses: 20,000 IU every 3 weeks, 40,000 IU every 3 weeks, and 40,000 IU every 2 weeks. Results: Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological, clinical, or biochemical effects in Friedreich ataxia patients.
Affiliations:
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A" first="Alessandra" last="Solari">Alessandra Solari</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Neuroepidemiology Unit, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>10 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Taroni, Franco" sort="Taroni, Franco" uniqKey="Taroni F" first="Franco" last="Taroni">Franco Taroni</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region 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last="Mariotti">Caterina Mariotti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Fancellu, Roberto" sort="Fancellu, Roberto" uniqKey="Fancellu R" first="Roberto" last="Fancellu">Roberto Fancellu</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Caldarazzo, Serena" sort="Caldarazzo, Serena" uniqKey="Caldarazzo S" first="Serena" last="Caldarazzo">Serena Caldarazzo</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Di Bella, Daniela" sort="Di Bella, Daniela" uniqKey="Di Bella D" first="Daniela" last="Di Bella">Daniela Di Bella</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Plumari, Massimo" sort="Plumari, Massimo" uniqKey="Plumari M" first="Massimo" last="Plumari">Massimo Plumari</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Lauria, Giuseppe" sort="Lauria, Giuseppe" uniqKey="Lauria G" first="Giuseppe" last="Lauria">Giuseppe Lauria</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Neuromuscular Disease Unit, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>7 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Cappellini, Maria D" sort="Cappellini, Maria D" uniqKey="Cappellini M" first="Maria D." last="Cappellini">Maria D. Cappellini</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Hematological Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Università degli Studi di Milano</s1><s2>Milan</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Duca, Lorena" sort="Duca, Lorena" uniqKey="Duca L" first="Lorena" last="Duca">Lorena Duca</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Hematological Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Università degli Studi di Milano</s1><s2>Milan</s2><s3>ITA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Solari, Alessandra" sort="Solari, Alessandra" uniqKey="Solari A" first="Alessandra" last="Solari">Alessandra Solari</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Neuroepidemiology Unit, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>10 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Taroni, Franco" sort="Taroni, Franco" uniqKey="Taroni F" first="Franco" last="Taroni">Franco Taroni</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico "Carlo Besta,"</s1><s2>Milan</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Erythropoietin</term><term>Friedreich ataxia</term><term>Idebenone</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hérédodégénérescence spinocérébelleuse de Friedreich</term><term>Pathologie du système nerveux</term><term>Erythropoïétine</term><term>Idébénone</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Friedreich ataxia is a rare disease caused by GAA-trinucleotide-repeat expansions in the frataxin gene, leading to marked reduction of qualitatively normal frataxin protein. Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia. Methods: We performed a 6-month, randomized placebo-controlled, double-blind, dose-response pilot trial to assess the safety and efficacy of erythropoietin in increasing frataxin levels. Sixteen adult patient with Friedreich ataxia were randomly assigned to erythropoietin (n = 11) or matching placebo (n = 5). All patients continued Idebenone treatment (5 mg/kg/day). Treatment consisted of a 6-month scaling-up phase, in which erythropoietin was administered intravenously at the following doses: 20,000 IU every 3 weeks, 40,000 IU every 3 weeks, and 40,000 IU every 2 weeks. Results: Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological, clinical, or biochemical effects in Friedreich ataxia patients.</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li></settlement></list><tree><country name="Italie"><region name="Lombardie"><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name></region><name sortKey="Caldarazzo, Serena" sort="Caldarazzo, Serena" uniqKey="Caldarazzo S" first="Serena" last="Caldarazzo">Serena Caldarazzo</name><name sortKey="Cappellini, Maria D" sort="Cappellini, Maria D" uniqKey="Cappellini M" first="Maria D." last="Cappellini">Maria D. Cappellini</name><name sortKey="Di Bella, Daniela" sort="Di Bella, Daniela" uniqKey="Di Bella D" first="Daniela" last="Di Bella">Daniela Di Bella</name><name sortKey="Duca, Lorena" sort="Duca, Lorena" uniqKey="Duca L" first="Lorena" last="Duca">Lorena Duca</name><name sortKey="Fancellu, Roberto" sort="Fancellu, Roberto" uniqKey="Fancellu R" first="Roberto" last="Fancellu">Roberto Fancellu</name><name sortKey="Lauria, Giuseppe" sort="Lauria, Giuseppe" uniqKey="Lauria G" first="Giuseppe" last="Lauria">Giuseppe Lauria</name><name sortKey="Nanetti, Lorenzo" sort="Nanetti, Lorenzo" uniqKey="Nanetti L" first="Lorenzo" last="Nanetti">Lorenzo Nanetti</name><name sortKey="Plumari, Massimo" sort="Plumari, Massimo" uniqKey="Plumari M" first="Massimo" last="Plumari">Massimo Plumari</name><name sortKey="Solari, Alessandra" sort="Solari, Alessandra" uniqKey="Solari A" first="Alessandra" last="Solari">Alessandra Solari</name><name sortKey="Taroni, Franco" sort="Taroni, Franco" uniqKey="Taroni F" first="Franco" last="Taroni">Franco Taroni</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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