{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:38:58Z","timestamp":1787020738445,"version":"build-2736575974"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-017-0693-2","type":"journal-article","created":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T10:53:20Z","timestamp":1503572000000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease"],"prefix":"10.1186","volume":"12","author":[{"name":"on behalf of the POM-001\/002 Investigators","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry J.","family":"Byrne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce A.","family":"Barshop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Barohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drago","family":"Bratkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Haroldsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Reilley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kala","family":"Jayaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liron","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,8,24]]},"reference":[{"key":"693_CR1","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/mus.21025","volume":"38","author":"JH Wokke","year":"2008","unstructured":"Wokke JH, Escolar DM, Pestronk A, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008;38:1236\u201345.","journal-title":"Muscle Nerve"},{"key":"693_CR2","first-page":"1533","volume-title":"Myology: basic and clinical","author":"AG Engel","year":"1996","unstructured":"Engel AG, Hirschhorn R. Acid maltase deficiency. In: Engel AG, Franzine-Armstrong C, editors. Myology: basic and clinical. New York: McGraw-Hill; 1996. p. 1533\u201353."},{"key":"693_CR3","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","author":"AT Ploeg van der","year":"2008","unstructured":"van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008;372:1342\u201353.","journal-title":"Lancet"},{"key":"693_CR4","first-page":"3389","volume-title":"The metabolic & molecular bases of inherited disease","author":"R Hirschhorn","year":"2001","unstructured":"Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CK, Beaudet AL, Sly WS, et al., editors. The metabolic & molecular bases of inherited disease, vol. 3. 8th ed. New York: McGraw-Hill; 2001. p. 3389\u2013420.","edition":"8th"},{"key":"693_CR5","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.nmd.2008.11.007","volume":"19","author":"NA Beek Van der","year":"2009","unstructured":"Van der Beek NA, Hagemans ML, Reuser AJ, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord. 2009;19:113\u20137.","journal-title":"Neuromuscul Disord"},{"key":"693_CR6","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1212\/01.WNL.0000158682.85052.C0","volume":"64","author":"U Mellies","year":"2005","unstructured":"Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64:1465\u20137.","journal-title":"Neurology"},{"key":"693_CR7","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","volume":"252","author":"LP Winkel","year":"2005","unstructured":"Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol. 2005;252:875\u201384.","journal-title":"J Neurol"},{"key":"693_CR8","first-page":"31","volume":"29","author":"BA Baldo","year":"2015","unstructured":"Baldo BA. Enzymes approved for human therapy: indications, mechanisms and adverse effects. Bio Drugs. 2015;29:31\u201355.","journal-title":"Bio Drugs"},{"key":"693_CR9","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.nurt.2008.08.009","volume":"5","author":"B Schoser","year":"2008","unstructured":"Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II\/Pompe disease. Neurotherapeutics. 2008;5:569\u201378.","journal-title":"Neurotherapeutics"},{"key":"693_CR10","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","volume":"362","author":"AT Ploeg van der","year":"2010","unstructured":"van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362:1396\u2013406.","journal-title":"N Engl J Med"},{"key":"693_CR11","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","volume":"68","author":"PS Kishnani","year":"2007","unstructured":"Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99\u2013109.","journal-title":"Neurology"},{"key":"693_CR12","first-page":"177","volume":"6","author":"JA Lim","year":"2014","unstructured":"Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014;6:177.","journal-title":"Front Aging Neurosci"},{"issue":"Suppl 1","key":"693_CR13","first-page":"114","volume":"12","author":"PS Kishnani","year":"2014","unstructured":"Kishnani PS, Beckemeyer AA. New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond. Pediatr Endocrinol Rev. 2014;12(Suppl 1):114\u201324.","journal-title":"Pediatr Endocrinol Rev"},{"key":"693_CR14","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1097\/GIM.0b013e31819d0996","volume":"11","author":"M Nicolino","year":"2009","unstructured":"Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11:210\u20139.","journal-title":"Genet Med"},{"key":"693_CR15","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1042\/bst0180367","volume":"18","author":"S Kornfeld","year":"1990","unstructured":"Kornfeld S. Lysosomal enzyme targeting. Biochem Soc Trans. 1990;18:367\u201374.","journal-title":"Biochem Soc Trans"},{"key":"693_CR16","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1042\/BJ20050364","volume":"389","author":"Y Zhu","year":"2005","unstructured":"Zhu Y, Li X, McVie-Wylie A, et al. Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J. 2005;389:619\u201328.","journal-title":"Biochem J"},{"key":"693_CR17","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2008.04.009","volume":"94","author":"AJ McVie-Wylie","year":"2008","unstructured":"McVie-Wylie AJ, Lee KL, Qiu H, et al. Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease. Mol Genet Metab. 2008;94:448\u201355.","journal-title":"Mol Genet Metab"},{"key":"693_CR18","doi-asserted-by":"crossref","first-page":"7970","DOI":"10.1016\/S0021-9258(18)83137-4","volume":"264","author":"PY Tong","year":"1989","unstructured":"Tong PY, Kornfeld S. Ligand interactions of the cation-dependent mannose 6-phosphate receptor. Comparison with the cation-independent mannose 6-phosphate receptor. J Biol Chem. 1989;264:7970\u20135.","journal-title":"J Biol Chem"},{"key":"693_CR19","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1074\/jbc.M112.438663","volume":"288","author":"JA Maga","year":"2013","unstructured":"Maga JA, Zhou J, Kambampati R, et al. Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in pompe mice. J Biol Chem. 2013;288:1428\u201338.","journal-title":"J Biol Chem"},{"key":"693_CR20","unstructured":"Safety\/Tolerability\/Pharmacokinetic (PK)\/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease. In: ClinicalTrialsgov [internet] Bethesda (MD): National Library of Medicine (US) 2000- [cited 2015 Aug 07] Accessed 18 Nov 2016; Available from: http:\/\/bit.ly\/2g3Pubc NLM Identifier: NCT01230801."},{"key":"693_CR21","unstructured":"Extension Study for Patients Who Have Participated in a BMN 701 Study. In: ClinicalTrialsgov [internet] Bethesda (MD): National Library of Medicine (US) 2000- [cited 2015 Aug 07] Accessed 18 Nov 2016; Available from: http:\/\/bit.ly\/2foq1Wa Identifier: NCT01435772."},{"key":"693_CR22","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.resp.2013.06.007","volume":"189","author":"DD Fuller","year":"2013","unstructured":"Fuller DD, ElMallah MK, Smith BK, et al. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013;189:241\u20139.","journal-title":"Respir Physiol Neurobiol"},{"key":"693_CR23","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.1073\/pnas.0308728100","volume":"101","author":"JH LeBowitz","year":"2004","unstructured":"LeBowitz JH, Grubb JH, Maga JA, Schmiel DH, Vogler C, Sly WS. Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. Proc Natl Acad Sci U S A. 2004;101:3083\u20138.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"693_CR24","doi-asserted-by":"crossref","unstructured":"SIP P. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme\u00ae. In: Inherited neuromuscular diseases. Netherlands: Springer; 2009. p. 39\u201346.","DOI":"10.1007\/978-90-481-2813-6_4"},{"key":"693_CR25","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.1468-1331.2008.02377.x","volume":"16","author":"T Merk","year":"2009","unstructured":"Merk T, Wibmer T, Schumann C, Kruger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol. 2009;16:274\u20137.","journal-title":"Eur J Neurol"},{"key":"693_CR26","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.pediatrneurol.2010.02.006","volume":"42","author":"TA Burrow","year":"2010","unstructured":"Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010;42:455\u20138.","journal-title":"Pediatr Neurol"},{"key":"693_CR27","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ymgme.2012.09.015","volume":"107","author":"AT Ploeg van der","year":"2012","unstructured":"van der Ploeg AT, Barohn R, Carlson L, et al. Open-label extension study following the late-onset treatment study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012;107:456\u201361.","journal-title":"Mol Genet Metab"},{"key":"693_CR28","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2009.08.003","volume":"99","author":"PS Kishnani","year":"2010","unstructured":"Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26\u201333.","journal-title":"Mol Genet Metab"},{"key":"693_CR29","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.ymgme.2012.01.019","volume":"105","author":"SG Banugaria","year":"2012","unstructured":"Banugaria SG, Patel TT, Mackey J, et al. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Mol Genet Metab. 2012;105:677\u201380.","journal-title":"Mol Genet Metab"},{"key":"693_CR30","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/gim.2011.4","volume":"14","author":"YH Messinger","year":"2012","unstructured":"Messinger YH, Mendelsohn NJ, Rhead W, et al. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012;14:135\u201342.","journal-title":"Genet Med"},{"key":"693_CR31","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1164\/rccm.166.4.518","volume":"166","author":"American Thoracic Society\/European Respiratory S","year":"2002","unstructured":"American Thoracic Society\/European Respiratory S. ATS\/ERS statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166:518\u2013624.","journal-title":"Am J Respir Crit Care Med"},{"key":"693_CR32","first-page":"1348","volume":"54","author":"JA Evans","year":"2009","unstructured":"Evans JA, Whitelaw WA. The assessment of maximal respiratory mouth pressures in adults. Respir Care. 2009;54:1348\u201359.","journal-title":"Respir Care"},{"key":"693_CR33","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.arbres.2012.12.003","volume":"49","author":"E Farrero","year":"2013","unstructured":"Farrero E, Ant\u00f3n A, Egea CJ, et al. Guidelines for the management of respiratory complications in patients with neuromuscular disease. Arch Bronconeumol. 2013;49:306\u201313.","journal-title":"Arch Bronconeumol"},{"key":"693_CR34","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1080\/17482960601030188","volume":"8","author":"M Mendoza","year":"2007","unstructured":"Mendoza M, Gelinas DF, Moore DH, Miller RG. A comparison of maximal inspiratory pressure and forced vital capacity as potential criteria for initiating non-invasive ventilation in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2007;8:106\u201311.","journal-title":"Amyotroph Lateral Scler"},{"key":"693_CR35","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.nmd.2015.11.009","volume":"26","author":"EM Johnson","year":"2016","unstructured":"Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease. Neuromuscul Disord. 2016;26:136\u201345.","journal-title":"Neuromuscul Disord"},{"key":"693_CR36","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/thx.48.7.698","volume":"48","author":"M Estenne","year":"1993","unstructured":"Estenne M, Gevenois PA, Kinnear W, Soudon P, Heilporn A, De Troyer A. Lung volume restriction in patients with chronic respiratory muscle weakness: the role of microatelectasis. Thorax. 1993;48:698\u2013701.","journal-title":"Thorax"},{"key":"693_CR37","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ymgme.2011.08.011","volume":"104","author":"M Roberts","year":"2011","unstructured":"Roberts M, Kishnani PS, van der Ploeg AT, et al. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe registry. Mol Genet Metab. 2011;104:574\u201382.","journal-title":"Mol Genet Metab"},{"key":"693_CR38","first-page":"643","volume":"119","author":"EH Bergofsky","year":"1979","unstructured":"Bergofsky EH. Respiratory failure in disorders of the thoracic cage. Am Rev Respir Dis. 1979;119:643\u201369.","journal-title":"Am Rev Respir Dis"},{"key":"693_CR39","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.prrv.2006.04.009","volume":"7","author":"AC Koumbourlis","year":"2006","unstructured":"Koumbourlis AC. Scoliosis and the respiratory system. Paediatr Respir Rev. 2006;7:152\u201360.","journal-title":"Paediatr Respir Rev"},{"key":"693_CR40","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2011.06.012","volume":"104","author":"NA Beek van der","year":"2011","unstructured":"van der Beek NA, van Capelle CI, van der Velden-van Etten KI, et al. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab. 2011;104:129\u201336.","journal-title":"Mol Genet Metab"},{"key":"693_CR41","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.autrev.2015.02.007","volume":"14","author":"M Deehan","year":"2015","unstructured":"Deehan M, Garces S, Kramer D, et al. Managing unwanted immunogenicity of biologicals. Autoimmun Rev. 2015;14:569\u201374.","journal-title":"Autoimmun Rev"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0693-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T14:58:36Z","timestamp":1659365916000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0693-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,24]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["693"],"URL":"https:\/\/doi.org\/10.1186\/s13023-017-0693-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,24]]},"article-number":"144"}}