A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Identifieur interne : 001279 ( PubMed/Checkpoint ); précédent : 001278; suivant : 001280A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Auteurs : Barry J. Byrne [États-Unis] ; Tarekegn Geberhiwot [Royaume-Uni] ; Bruce A. Barshop [États-Unis] ; Richard Barohn [États-Unis] ; Derralynn Hughes [Royaume-Uni] ; Drago Bratkovic [Australie] ; Claude Desnuelle [France] ; Pascal Laforet [France] ; Eugen Mengel [Allemagne] ; Mark Roberts [Royaume-Uni] ; Peter Haroldsen [États-Unis] ; Kristin Reilley [États-Unis] ; Kala Jayaram [États-Unis] ; Ke Yang [États-Unis] ; Liron Walsh [États-Unis]Source :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 2017.
Abstract
Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.
DOI: 10.1186/s13023-017-0693-2
PubMed: 28838325
Affiliations:
- Allemagne, Australie, France, Royaume-Uni, États-Unis
- Provence-Alpes-Côte d'Azur, Île-de-France
- Nice, Paris
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Byrne</name><affiliation wicri:level="1"><nlm:affiliation>University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607, USA. bbyrne@ufl.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607</wicri:regionArea><wicri:noRegion>32607</wicri:noRegion></affiliation></author><author><name sortKey="Geberhiwot, Tarekegn" sort="Geberhiwot, Tarekegn" uniqKey="Geberhiwot T" first="Tarekegn" last="Geberhiwot">Tarekegn Geberhiwot</name><affiliation wicri:level="1"><nlm:affiliation>University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW</wicri:regionArea><wicri:noRegion>B15 2GW</wicri:noRegion></affiliation></author><author><name sortKey="Barshop, Bruce A" sort="Barshop, Bruce A" uniqKey="Barshop B" first="Bruce A" last="Barshop">Bruce A. 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Byrne</name><affiliation wicri:level="1"><nlm:affiliation>University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607, USA. bbyrne@ufl.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607</wicri:regionArea><wicri:noRegion>32607</wicri:noRegion></affiliation></author><author><name sortKey="Geberhiwot, Tarekegn" sort="Geberhiwot, Tarekegn" uniqKey="Geberhiwot T" first="Tarekegn" last="Geberhiwot">Tarekegn Geberhiwot</name><affiliation wicri:level="1"><nlm:affiliation>University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW</wicri:regionArea><wicri:noRegion>B15 2GW</wicri:noRegion></affiliation></author><author><name sortKey="Barshop, Bruce A" sort="Barshop, Bruce A" uniqKey="Barshop B" first="Bruce A" last="Barshop">Bruce A. Barshop</name><affiliation wicri:level="1"><nlm:affiliation>University of California San Diego Health System, 4168 Front Street, San Diego, CA, 92103, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of California San Diego Health System, 4168 Front Street, San Diego, CA, 92103</wicri:regionArea><wicri:noRegion>92103</wicri:noRegion></affiliation></author><author><name sortKey="Barohn, Richard" sort="Barohn, Richard" uniqKey="Barohn R" first="Richard" last="Barohn">Richard Barohn</name><affiliation wicri:level="1"><nlm:affiliation>Kansas University Medical Center, 3901 Rainbow Blvd/MSN 2012, Kansas City, KS, 66160, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Kansas University Medical Center, 3901 Rainbow Blvd/MSN 2012, Kansas City, KS, 66160</wicri:regionArea><wicri:noRegion>66160</wicri:noRegion></affiliation></author><author><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><affiliation wicri:level="1"><nlm:affiliation>Royal Free London NHS Foundation & University College London Department of Hematology, Pond St, London, NW3 2QG, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Royal Free London NHS Foundation & University College London Department of Hematology, Pond St, London, NW3 2QG</wicri:regionArea><wicri:noRegion>NW3 2QG</wicri:noRegion></affiliation></author><author><name sortKey="Bratkovic, Drago" sort="Bratkovic, Drago" uniqKey="Bratkovic D" first="Drago" last="Bratkovic">Drago Bratkovic</name><affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Frome Rd, Adelaide, SA, 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Pathology, Frome Rd, Adelaide, SA, 5000</wicri:regionArea><wicri:noRegion>5000</wicri:noRegion></affiliation></author><author><name sortKey="Desnuelle, Claude" sort="Desnuelle, Claude" uniqKey="Desnuelle C" first="Claude" last="Desnuelle">Claude Desnuelle</name><affiliation wicri:level="3"><nlm:affiliation>University Hospital of Nice, Pasteur Hospital, Nice, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>University Hospital of Nice, Pasteur Hospital, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforet">Pascal Laforet</name><affiliation wicri:level="3"><nlm:affiliation>Paris-Est Neuromuscular Center, INSERM U974, UPMC, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Paris-Est Neuromuscular Center, INSERM U974, UPMC, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Mengel, Eugen" sort="Mengel, Eugen" uniqKey="Mengel E" first="Eugen" last="Mengel">Eugen Mengel</name><affiliation wicri:level="1"><nlm:affiliation>Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz</wicri:regionArea><wicri:noRegion>55131, Mainz</wicri:noRegion><wicri:noRegion>55131, Mainz</wicri:noRegion><wicri:noRegion>Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Roberts, Mark" sort="Roberts, Mark" uniqKey="Roberts M" first="Mark" last="Roberts">Mark Roberts</name><affiliation wicri:level="1"><nlm:affiliation>Salford Royal NHS Foundation Trust, M6 8HD, Salford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Salford Royal NHS Foundation Trust, M6 8HD, Salford</wicri:regionArea><wicri:noRegion>Salford</wicri:noRegion></affiliation></author><author><name sortKey="Haroldsen, Peter" sort="Haroldsen, Peter" uniqKey="Haroldsen P" first="Peter" last="Haroldsen">Peter Haroldsen</name><affiliation wicri:level="1"><nlm:affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949</wicri:regionArea><wicri:noRegion>94949</wicri:noRegion></affiliation></author><author><name sortKey="Reilley, Kristin" sort="Reilley, Kristin" uniqKey="Reilley K" first="Kristin" last="Reilley">Kristin Reilley</name><affiliation wicri:level="1"><nlm:affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949</wicri:regionArea><wicri:noRegion>94949</wicri:noRegion></affiliation></author><author><name sortKey="Jayaram, Kala" sort="Jayaram, Kala" uniqKey="Jayaram K" first="Kala" last="Jayaram">Kala Jayaram</name><affiliation wicri:level="1"><nlm:affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949</wicri:regionArea><wicri:noRegion>94949</wicri:noRegion></affiliation></author><author><name sortKey="Yang, Ke" sort="Yang, Ke" uniqKey="Yang K" first="Ke" last="Yang">Ke Yang</name><affiliation wicri:level="1"><nlm:affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949</wicri:regionArea><wicri:noRegion>94949</wicri:noRegion></affiliation></author><author><name sortKey="Walsh, Liron" sort="Walsh, Liron" uniqKey="Walsh L" first="Liron" last="Walsh">Liron Walsh</name><affiliation wicri:level="1"><nlm:affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949</wicri:regionArea><wicri:noRegion>94949</wicri:noRegion></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28838325</PMID><DateCreated><Year>2017</Year><Month>08</Month><Day>25</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>31</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>12</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Aug</Month><Day>24</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.</ArticleTitle><Pagination><MedlinePgn>144</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-017-0693-2</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Reveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was <1.2 h. Eighteen of 22 subjects completed 72 weeks of treatment. The most common adverse events were hypoglycemia (63%), dizziness, fall, headache, and nausea (55% for each). Serious adverse events included hypersensitivity (n = 1), symptomatic hypoglycemia (n = 2), presyncope (n = 1), and acute cardiac failure (n = 1). In the dose-escalation study, all treated subjects tested positive for anti-reveglucosidase alfa, anti-rhGAA, anti-IGF1, and anti-IGF2 antibodies at least once. Subjects receiving 20 mg/kg of reveglucosidase alfa demonstrated increases in predicted maximum inspiratory pressure (13.9%), predicted maximum expiratory pressure (8.0%), forced vital capacity (-0.4%), maximum voluntary ventilation (7.4 L/min), and mean absolute walking distance (22.3 m on the 6-min walk test) at 72 weeks.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Additional studies are needed to further assess the safety and efficacy of this approach. Improvements in respiratory muscle strength, lung function, and walking endurance in subjects with LOPD may make up for the risk of hypersensitivity reactions and hypoglycemia. Reveglucosidase alfa may provide a new treatment option for patients with late-onset Pompe disease.</AbstractText><AbstractText Label="TRIAL REGISTRATION" NlmCategory="BACKGROUND">ISRCTN01435772 and ISRCTN01230801 , registered 27 October 2011.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Byrne</LastName><ForeName>Barry J</ForeName><Initials>BJ</Initials><AffiliationInfo><Affiliation>University of Florida, School of Medicine, 1600 SW Archer Road, Gainesville, FL, 32607, USA. bbyrne@ufl.edu.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, University of Florida, P.O. Box 100296, Gainesville, FL, 32610, USA. bbyrne@ufl.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Geberhiwot</LastName><ForeName>Tarekegn</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2GW, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barshop</LastName><ForeName>Bruce A</ForeName><Initials>BA</Initials><AffiliationInfo><Affiliation>University of California San Diego Health System, 4168 Front Street, San Diego, CA, 92103, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barohn</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Kansas University Medical Center, 3901 Rainbow Blvd/MSN 2012, Kansas City, KS, 66160, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hughes</LastName><ForeName>Derralynn</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Royal Free London NHS Foundation & University College London Department of Hematology, Pond St, London, NW3 2QG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bratkovic</LastName><ForeName>Drago</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>SA Pathology, Frome Rd, Adelaide, SA, 5000, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Desnuelle</LastName><ForeName>Claude</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>University Hospital of Nice, Pasteur Hospital, Nice, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laforet</LastName><ForeName>Pascal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Paris-Est Neuromuscular Center, INSERM U974, UPMC, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mengel</LastName><ForeName>Eugen</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roberts</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Salford Royal NHS Foundation Trust, M6 8HD, Salford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haroldsen</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reilley</LastName><ForeName>Kristin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jayaram</LastName><ForeName>Kala</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yang</LastName><ForeName>Ke</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Walsh</LastName><ForeName>Liron</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>BioMarin Pharmaceutical, 105 Digital Drive, Novato, CA, 94949, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>POM-001/002 Investigators</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>08</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Orphanet J Rare Dis</MedlineTA><NlmUniqueID>101266602</NlmUniqueID><ISSNLinking>1750-1172</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Eur J Neurol. 2009 Feb;16(2):274-7</RefSource><PMID Version="1">19138339</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 1989 May 15;264(14):7970-5</RefSource><PMID Version="1">2542255</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol. 2005 Aug;252(8):875-84</RefSource><PMID Version="1">16133732</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuromuscul Disord. 2016 Feb;26(2):136-45</RefSource><PMID Version="1">26794303</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Bronconeumol. 2013 Jul;49(7):306-13</RefSource><PMID Version="1">23410743</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2008 Oct 11;372(9646):1342-53</RefSource><PMID Version="1">18929906</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Amyotroph Lateral Scler. 2007 Apr;8(2):106-11</RefSource><PMID Version="1">17453639</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2005 Apr 26;64(8):1465-7</RefSource><PMID Version="1">15851748</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2007 Jan 9;68(2):99-109</RefSource><PMID Version="1">17151339</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuromuscul Disord. 2009 Feb;19(2):113-7</RefSource><PMID Version="1">19084399</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Adv Exp Med Biol. 2009;652:39-46</RefSource><PMID Version="1">20225018</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Autoimmun Rev. 2015 Jul;14(7):569-74</RefSource><PMID Version="1">25742758</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Respir Physiol Neurobiol. 2013 Nov 1;189(2):241-9</RefSource><PMID Version="1">23797185</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurotherapeutics. 2008 Oct;5(4):569-78</RefSource><PMID Version="1">19019308</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Paediatr Respir Rev. 2006 Jun;7(2):152-60</RefSource><PMID Version="1">16765303</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Respir Crit Care Med. 2002 Aug 15;166(4):518-624</RefSource><PMID Version="1">12186831</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2011 Sep-Oct;104(1-2):129-36</RefSource><PMID Version="1">21763167</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3083-8</RefSource><PMID Version="1">14976248</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2011 Dec;104(4):574-82</RefSource><PMID Version="1">21930409</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Muscle Nerve. 2008 Oct;38(4):1236-45</RefSource><PMID Version="1">18816591</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2010 Jan;99(1):26-33</RefSource><PMID Version="1">19775921</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2012 Apr;105(4):677-80</RefSource><PMID Version="1">22365055</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2012 Nov;107(3):456-61</RefSource><PMID Version="1">23031366</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Front Aging Neurosci. 2014 Jul 23;6:177</RefSource><PMID Version="1">25183957</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>BioDrugs. 2015 Feb;29(1):31-55</RefSource><PMID Version="1">25648140</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochem Soc Trans. 1990 Jun;18(3):367-74</RefSource><PMID Version="1">2164980</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2008 Aug;94(4):448-55</RefSource><PMID Version="1">18538603</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2010 Apr 15;362(15):1396-406</RefSource><PMID Version="1">20393176</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2013 Jan 18;288(3):1428-38</RefSource><PMID Version="1">23188827</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Respir Care. 2009 Oct;54(10):1348-59</RefSource><PMID Version="1">19796415</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24</RefSource><PMID Version="1">25345093</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Med. 2009 Mar;11(3):210-9</RefSource><PMID Version="1">19287243</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 2010 Jun;42(6):455-8</RefSource><PMID Version="1">20472203</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochem J. 2005 Aug 1;389(Pt 3):619-28</RefSource><PMID Version="1">15839836</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Thorax. 1993 Jul;48(7):698-701</RefSource><PMID Version="1">8153916</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Med. 2012 Jan;14(1):135-42</RefSource><PMID Version="1">22237443</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am Rev Respir Dis. 1979 Apr;119(4):643-69</RefSource><PMID Version="1">375788</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Efficacy</Keyword><Keyword MajorTopicYN="N">Enzyme replacement therapy</Keyword><Keyword MajorTopicYN="N">Late-onset Pompe disease</Keyword><Keyword MajorTopicYN="N">Pharmacokinetics</Keyword><Keyword MajorTopicYN="N">Pulmonary</Keyword><Keyword MajorTopicYN="N">Respiratory</Keyword><Keyword MajorTopicYN="N">Reveglucosidase alfa</Keyword><Keyword MajorTopicYN="N">Safety</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>12</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>08</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>8</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>8</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>8</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28838325</ArticleId><ArticleId IdType="doi">10.1186/s13023-017-0693-2</ArticleId><ArticleId IdType="pii">10.1186/s13023-017-0693-2</ArticleId><ArticleId IdType="pmc">PMC5571484</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Provence-Alpes-Côte d'Azur</li><li>Île-de-France</li></region><settlement><li>Nice</li><li>Paris</li></settlement></list><tree><country name="États-Unis"><noRegion><name sortKey="Byrne, Barry J" sort="Byrne, Barry J" uniqKey="Byrne B" first="Barry J" last="Byrne">Barry J. Byrne</name></noRegion><name sortKey="Barohn, Richard" sort="Barohn, Richard" uniqKey="Barohn R" first="Richard" last="Barohn">Richard Barohn</name><name sortKey="Barshop, Bruce A" sort="Barshop, Bruce A" uniqKey="Barshop B" first="Bruce A" last="Barshop">Bruce A. Barshop</name><name sortKey="Haroldsen, Peter" sort="Haroldsen, Peter" uniqKey="Haroldsen P" first="Peter" last="Haroldsen">Peter Haroldsen</name><name sortKey="Jayaram, Kala" sort="Jayaram, Kala" uniqKey="Jayaram K" first="Kala" last="Jayaram">Kala Jayaram</name><name sortKey="Reilley, Kristin" sort="Reilley, Kristin" uniqKey="Reilley K" first="Kristin" last="Reilley">Kristin Reilley</name><name sortKey="Walsh, Liron" sort="Walsh, Liron" uniqKey="Walsh L" first="Liron" last="Walsh">Liron Walsh</name><name sortKey="Yang, Ke" sort="Yang, Ke" uniqKey="Yang K" first="Ke" last="Yang">Ke Yang</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Geberhiwot, Tarekegn" sort="Geberhiwot, Tarekegn" uniqKey="Geberhiwot T" first="Tarekegn" last="Geberhiwot">Tarekegn Geberhiwot</name></noRegion><name sortKey="Hughes, Derralynn" sort="Hughes, Derralynn" uniqKey="Hughes D" first="Derralynn" last="Hughes">Derralynn Hughes</name><name sortKey="Roberts, Mark" sort="Roberts, Mark" uniqKey="Roberts M" first="Mark" last="Roberts">Mark Roberts</name></country><country name="Australie"><noRegion><name sortKey="Bratkovic, Drago" sort="Bratkovic, Drago" uniqKey="Bratkovic D" first="Drago" last="Bratkovic">Drago Bratkovic</name></noRegion></country><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Desnuelle, Claude" sort="Desnuelle, Claude" uniqKey="Desnuelle C" first="Claude" last="Desnuelle">Claude Desnuelle</name></region><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforet">Pascal Laforet</name></country><country name="Allemagne"><noRegion><name sortKey="Mengel, Eugen" sort="Mengel, Eugen" uniqKey="Mengel E" first="Eugen" last="Mengel">Eugen Mengel</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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