New therapeutic approaches for Pompe disease: Enzyme replacement therapy and beyond

Pediatric Endocrinology Reviews

Volumn 12, Issue , 2014, Pages 114-124

  Kishnani, Priya S ^a   Beckemeyer, Alexandra A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Alglucosidase alfa; Chaperones; ERT; Gene therapy; Pompe disease; Small molecule therapy; Substrate reduction

Indexed keywords

1 DEOXYNOJIRIMYCIN; BORTEZOMIB; IMMUNOGLOBULIN; METHOTREXATE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; RITUXIMAB; ALPHA GLUCOSIDASE; CHAPERONE; GAA PROTEIN, HUMAN;

ANTIBODY TITER; ARTICLE; CLINICAL TRIAL (TOPIC); DISEASE COURSE; ENZYME REPLACEMENT; GLYCOGEN STORAGE DISEASE TYPE 2; HISTORY; HUMAN; IMMUNOMODULATION; KINESIOTHERAPY; LOW CARBOHYDRATE DIET; MORTALITY; NONHUMAN; PROTEIN DIET; RESISTANCE TRAINING; RESPIRATORY MUSCLE STRENGTH TRAINING; TREATMENT OUTCOME; VIRAL GENE THERAPY; GENE THERAPY; REVIEW;

ALPHA-GLUCOSIDASES; ENZYME REPLACEMENT THERAPY; GENETIC THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; IMMUNOMODULATION; MOLECULAR CHAPERONES;

EID: 84908230947     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (112)

1. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006b; 8:267-288
2. Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase deficiency). In Beaudet A, Scriver C, Sly W, et al (ed). The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill. 2001. 3389-3420
3. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004; 144: S35-43
4. MüTler-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007 Oct; 17(9-10):698-706
5. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK. Late-Onset Treatment Study Investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul;13(7):625-631
6. Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid a-glucosidase activity. Muscle Nerve. 2011 May;43(5):665-670
7. GUngör D, de Vries JM, Hop WC, Reuser AJ, van Doom PA, van der Ploeg AT, Hagemans ML. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011 Jun 1; 6:34
8. Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005 Apr 26;64(8):1465-1467
9. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doom PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005 Jun 28;64(12):2139-2141
10. Laforet P, Petiot P, Nicolino M, Orlikowski D, Callaud C, Pelligrini N, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology. 2008, 70:2063-2066
11. Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plötz PH, Raben N. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol. 2006b, 59:700-708
12. Raben N, Wong A, Ralston E, Myerowitz R. Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):13-21
13. Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, Danesino C. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord. 2004 Jan;14(1):51-55
14. Diamini N, Jan W, Norwood F, Sheehan J, Spahr R, Al-Sarraj S, Anthony Hülse J, Hughes D, Champion MP, Jungbluth H. Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease). Neuromuscul Disord. 2008 May;18(5):408-409
15. Wary C, Laforet P, Eymard B, Fardeau M, Leroy-Willig A, Bassez G, Leroy JP, Caillaud C, Poenaru L, Carlier PG. Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency. Neuromuscul Disord. 2003 Sep; 13(7-8):545-553
16. Myozyme® Prescribing Information, Genzyme Corporation. Accessed 17 July 2012. URL: http://www.myozyme.com/
17. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F.Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile onset Pompe disease. J Pediatr. 2006c, 148: 671-676
18. van den Hout HM, Hop W, Van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003; 112:332-340
19. Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Sep; 14(9):800-810
20. Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria S, Feeney EJ, Raben N, Kishnani PS. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. Orphanet J Rare Dis. 2013; 8:90
21. Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Render C, Kishnani PS. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-49
22. Banugaria SG, Patel TT, Kishnani PS. Immune modulation in Pompe disease treated with enzyme replacement therapy. Expert Rev Clin Immunol. 2012a, Aug;8(6):497-499
23. Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan; 14(1):135-142
24. Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS. Elimination of antibodies to recombinant enzyme in Pompe's disease. N Engl J Med. 2009 Jan 8; 360(2):194-195
25. Yanovitch TL, Banugaria SG, Praia AD, Kishnani PS. Clinical and Histologic Ocular Findings in Pompe Disease. Journal of Pediatric Ophthalmology and Strabismus Jan/Feb 2010a; 47:1:34-40
26. Slingerland NW, Polling JR, van Gelder CM, van der Ploeg AT, Bleyen I. Ptosis, extraocular motility disorder, and myopia as features of Pompe disease. Orbit. 2011 Mar; 30(2):111-113
27. Prakalapakorn, G. Ocular Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy. Journal of AAPOS. Accepted 2013
28. Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, O'Grady G, Heller JH, Kishnani PS. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010 Dec;25(4):277-283
29. van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doom PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012 May; 35(3):505-511
30. Muller CW, Jones HN, O'Grady G, Su'areza AH, Heller JH, Kishnani PS. Language and speech function in children with infantile Pompe disease. Journal of Pediatric Neurology. 2009; 7:147-156
31. Tan QK, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013 Feb; 108(2):142-144
32. Patel TT, Banugaria SG, Frush DP, Enterline DS, Tanpaiboon P, Kishnani PS. Basilar artery aneurysm: a new finding in classic infantile Pompe disease. Muscle Nerve. 2013 Apr;47(4):613-615
33. Sakurai I, Tosaka A, Mori Y, Imura S, Aoki K. Glycogenosis type II (Pompe): The fourth autopsy case in Japan. Acta Pathol Jpn. 1974; 24:829-846
34. van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis. 2010a Oct; 33(5):597-602
35. Spiridigliozzi GA, Heller JH, Case LE, Jones HN, Kishnani PS. Early cognitive development in children with infantile Pompe disease. Mol Genet Metab. 2012a Mar;105(3):428-432
36. Spiridigliozzi GA, Heller JH, Kishnani PS. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up. Am J Med Genet C Semin Med Genet. 2012b Feb 15;160(1):22-29
37. Ebbink BJ, Aarsen FK, van Gelder CM, van den Hout JM, Weisglas-Kuperus N, Jaeken J, Lequin MH, Arts WF, van der Ploeg AT. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology. 2012, May 8;78(19):1512-1518
38. Hagemans ML, Hop WJ, Van Doom PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006 Feb 28;66(4):581-583
39. Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11
40. Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, P. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008Oct;38(4):1236-1245
41. Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-88
42. van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT. Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord. 2010b Dec; 20(12):775-782
43. Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010 Dec;33(6):727-735
44. Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. 2010 Jan;257(1):91-97
45. Nemes A, Soliman Ol, Geleijnse ML, Anwar AM, van der Beek NA, van Doom PA, Gavaller H, Csajbok E, ten Cate FJ. Increased aortic stiffness in glycogenosis type 2 (Pompe's disease). Int J Cardiol. 2007 Aug9;120(1):138-41. Epub2006 Nov3
46. El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinned SG, Malovrh P, Conway R, Kishnani PS. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab. 2011, Sep-Oct;104(1-2):118-122
47. Yanovitch TL, Casey R, Banugaria SG, Kishnani PS. Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease. J Neuroophthalmol. 2010b Jun; 30(2):165-166
48. Ravaglia S, Bini P, Garaghani KS, Danesino C. Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol. 2010 Dec;30(4):389-390
49. De Wilde FL., D'Haens M, Smet H, Martin JJ, Tassignon MJ. Surgical treatment of myogenic blepharoptosis. Bull Soc Beige Ophtalmol. 1995;255:139-46
50. Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013 Apr;23(4):319-323
51. Dubrovsky A, Corderi J, Lin M, Kishnani PS, Jones HN. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve. 2011, Dec;44(6):897-901
52. Musumeci O, Catalano N, Barca E, Ravaglia S, Fiumara A, Gangemi G, Rodolico C, Sorge G, Vita G, Galletti F, Toscano A. Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. Mol Genet Metab. 2012 Nov; 107(3):480-484
53. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004, 27: 385-410
54. Raben N, Danon M, Gilbert AL, Dwivedi S, Collins B, Thurberg BL, Mattaliano RJ, Nagaraju K, Plötz PH. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab. 2003 Sep-Oct;80(1-2):159-169
55. Winkel LP, Van den Hout JM, Kamphoven JM, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doom PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Enzyme replacement therapy in late onset Pompe's disease: a three-year follow-up. Ann Neurol. 2004; 55:495-502
56. Zhu Y, Li X, Kyazike J, Zhou & Thurberg BL, Raben N, Mattaliano RJ, Cheng SH. Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in Pompe mice. J Biol Chem. 2004; 279: 50336-50341
57. Raben N, Fukuda T, Gilbert AL, Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plötz PH. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. MolTher. 2005; 11:48-56
58. Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plötz PH, Raben N. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. MolTher. 2006a, 14: 831-839
59. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant human acid [alphaj-glucosidase: major clinical benefits in infantile onset Pompe disease. Neurology. 2007, 68: 99-109
60. Shigeto SI, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Improved assay for differential diagnosis between Pompe disease and acid a-glucosidase pseudodeficiency on dried blood spots. Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22
61. Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009 Dec; 124(6):e1116-1125
62. Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011, Jun;158(6):1023-1027. e1
63. Burton BK. Newborn screening for Pompe disease: an update, 2011. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):8-12
64. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatö L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210-219
65. Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase l/ll clinical trial. Genet Med. 2001, 3:132-138
66. Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan; 99(1):26-33
67. Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012 Jul;106(3):301-309
68. Khallaf HH, Propst J, Geffrard S, Botha E, Pervaiz MA. CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy. JIMD Rep. 2013; 9:133-7. Epub 2012 Nov 7
69. Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011, Aug;13(8):729-736
70. Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT. PLoS One. 2013b Jun 25;8(6):e67052
71. Elder ME, Nayak S, Collins SW, Lawson LA, Kelley JS, Herzog RW, Modica RF, Lew J, Lawrence RM, Byrne BJ. B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2013 Sep; 163(3):847-54.e1. Epub 2013 Apr 16
72. Hunley TE, Corzo D, Dudek M, Kishnani P, Amalfitano A, Chen YT, Richards SM, Phillips JA 3rd, Fogo AB, Tiller GE. Nephrotic syndrome complicating alphaglucosidase replacement therapy for Pompe disease. Pediatrics. 2004; 114(4), e532-e535
73. Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, Charrow J, Chen YT, Kishnani PS. 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. 2012b Apr;105(4):677-680
74. Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani PS. Bortezomib in the rapid reduction of high-sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genet Med. 2013a Feb;15(2):123-131
75. Slonim, AE, Coleman RA, McElligot MA, Najjar J, Hirschhorn K, Labadie GU, Mrak R, Evans OB, Shipp E, Presson R. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology. 1983, 33:24-38
76. Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug;156 Suppl 1:S39-42
77. Bembi B, Ciana G, Martini C, Benettoni A, Gombacci A, Deganuto M, Pittis MG. Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II. J Inherit Metab Dis. 2003;26(7):675-81.
78. Slonim AE, Bulone L, Minikes J, Hays AP, Shanske S, Tsujino S, DiMauro S. Benign course of glycogen storage disease type lib in two brothers: nature or nurture?Muscle Nerve. 2006 Apr;33(4):571-574
79. Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007Jan;35(1):70-77
80. Terzis G, Krase A, Papadimas G, Papadopoulos C, Kavouras SA, Manta P. Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2012 Dec; 107(4):669-673
81. Nilsson Ml, Samjoo IA, Hettinga BP, Koeberl DD, Zhang H, Hawke TJ, Nissar AA, Ali T, Brandt L, Ansari MU, Hazari H, Patel N, Amon J, Tarnopolsky MA. Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. Mol Genet Metab. 2012 Nov; 107(3):469-479
82. Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, 0rngreen MC, Lacour A, Vissing J. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab. 2012 Nov; 107(3):462-468
83. Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79
84. Haaker G, Forst J, Forst R, Fujak A. Orthopedic management of patients with pompe disease: a retrospective case series of 8 patients. ScientificWorldJournal. 2014 Jan 2; 2014:963861. eCollection 2014
85. Jones HN, Moss T, Edwards L, Kishnani PS. Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease. Mol Genet Metab. 2011 Nov;104(3):417-420
86. Khan A, Ramage B, Robu I, Benard L. Side-alternating vibration training improves muscle performance in a patient with late-onset Pompe disease. Case Rep Med. 2009; 741087
87. Zhu Y, Jiang JL, Gumlaw NK, Zhang J, Bercury SD, Ziegler RJ, Lee K, Kudo M, Canfield WM, Edmunds T,-Jiang C, Mattaliano RJ, Cheng SH. Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther. 2009 Jun;17(6):954-963
88. Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther. 2009 Jun;17(6):964-971
89. Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL, Marshall J, McPherson JM, Mattaliano RJ, Cheng SH, Scheule RK, Moreland RJ. Inhibition of glycogen biosynthesis via mTORO suppression as an adjunct therapy for Pompe disease. Mol Genet Metab. 2010 Aug;100(4):309-315
90. Zhu Y, Li X, McVie-Wylie A, Jiang C, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH. Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. BiochemJ, 2005. 389: 619-628
91. Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. ClinicalTrials.gov Identifier: NCT01898364 First received: July 2, 2013
92. Maga JA, Zhou J, Kambampati R, Peng S, Wang X, Bohnsack RN, Thomm A, Golata S, Tom P, Dahms NM, Byrne BJ, LeBowitz JH. Glycosylation-independent lysosomal targeting of acid a-glucosidase enhances muscle glycogen clearance in Pompe mice. J Biol Chem. 2013 Jan 18; 288(3):1428-1438
93. Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease. First received: October 27, 2010. Biomarin Pharmaceutical. ClinicalTrials. gov Identifier NCT 01230801
94. Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS. Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle. Mol Genet Metab. 2011 Jun;103(2):107-112
95. Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J. 2014 Jan 17. [Epub ahead of print]
96. Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy. First Received: Sept 11, 2013. FDA. ClinicalTrials.gov Identifier NCT01942590
97. Schubert U, Anton LC, Gibbs J, Norbury CC, Yewdell JW, Bennink JR. Rapid degradation of a large fraction of newly synthesized proteins by proteasomes. Nature. 2000, 404:770-774
98. Yewdell JW. Not such a dismal science: the economics of protein synthesis, folding, degradation and antigen processing. Trends Cell Biol. 2001;11:294-297
99. Oda Y, Hosokawa N, Wada I, Nagata K. EDEM as an acceptor of terminally misfolded glycoproteins released from calnexin. Science. 2003, 299:1394-1397
100. Princiotta MF, Finzi D, Ojan SB, Gibbs J, Schuchmann S, Buttgereit F, Bennink JR, Yewdell JW. Quantitating protein synthesis, degradation, and endogenous antigen processing. Immunity. 2003, 18: 343-354
101. Porto C, Ferrara MC, Meli M, Acampora E, Avolio V, Rosa M, Cobucci-Ponzano B, Colombo G, Moracci M, Andria G, Parenti G. Pharmacological enhancement of a-glucosidase by the allosteric chaperone N-acetylcysteine. Mol Ther. 2012 Dec 20. (12):2201-11. Epub 2012 Sep 18
102. Duvoglustat HCl (AT2220) Co-Administered with ERT-Phase 2 Study 010 (AT2220-010 Study): An Open-Label, Multi-Center, Study to Investigate Drug-Drug Interactions Between Duvoglustat HCl (AT2220) and Alglucosidase Alfa in Patients With Pompe Disease. Amicus Therapeutics, ClinicalTrials.gov Identifier NCT 01380743, 2013
103. Hsu J, Northrup L, Bhowmick T, Muro S. Enhanced delivery of a-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders. Nanomedicine. 2012 Jul;8(5):731-739
104. Shimada Y, Nishida H, Nishiyama Y, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T. Proteasome inhibitors improve the function of mutant lysosomal a-glucosidase in fibroblasts from Pompe disease patient carrying c.546GT mutation. Biochem Biophys Res Commun. 2011 Nov 18;415(2):274-278
105. Amalfitano A, McVie-Wylie AJ, Hu H, Dawson TL, Raben N, Plotz P, Chen YT. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. Proc Natl Acad Sci USA. 1999, 96: 8861-8866
106. Pauly DF, Fraites TJ, Toma C, Bayes HS, Huie ML, Hirschhorn R, Plotz PH, Raben N, Kessler PD, Byrne BJ. Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease. Hum Gene Ther. 2001, 12: 527-538
107. Ding EY, Hodges BL, Hu H, McVie-Wylie AJ, Serra D, Migone FK, Pressley D, Chen YT, Amalfitano A. Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice. Hum Gene Ther. 2001, 12: 955-965
108. Koeberl DD, Kishnani PS. Immunomodulatory gene therapy in lysosomal storage disorders. Curr Gene Ther. 2009 Dec;9(6):503-510
109. Zhang P, Luo X, Bird A, Li S, Koeberl DD. Deficiency in MyD88 Signaling Results in Decreased Antibody Responses to an Adeno-Associated Virus Vector in Murine Pompe Disease. Biores Open Access. 2012 Jun;1(3):109-114
110. Falk DJ, Mah CS, Soustek MS, Lee KZ, Elmallah MK, Cloutier DA, Fuller DD, Byrne BJ. Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. Mol Ther. 2013 Sep; 21(9):1661-7. Epub 2013 Jun 4
111. Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, Fuller DD, Cleaver BD, Clement N, Phillips D, Islam S, Dobjia N, Byrne BJ. Phase l/ll trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther. 2013 Jun;24(6):630-640
112. Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease. ClincalTrials.gov First Received: July 13, 2009 University of Florida Identifier NCT 00976352