Figures & data
Table 1 Clinical features of classic and non-classic Pompe patients
Table 2 Efficacy of ERT in infantile Pompe disease – study summary
Table 3 Efficacy of ERT in non-classic Pompe disease – study summary
Table 4 Adverse events (AE) and severe adverse events (SAE) reported under ERT
Schuller 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;160C(1):80–88. Montagnese F, Barca E, Musumeci O, et al. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol. 2015;262(4):968–978. Bandyopadhyay S, Wicklund M, Specht CS. Novel presentation of pompe disease: Inclusion body myositis-like clinical phenotype. Muscle Nerve. 2015;52(3):466–467. Musumeci O, la Marca G, Spada M et al. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. Journal of neurology, neurosurgery, and psychiatry. Epub 2015 Mar 17. Wens SC, Ciet P, Perez-Rovira A, et al. Lung MRI and impairment of diaphragmatic function in Pompe disease. BMC Pulm Med. 2015;15:54. Schneider I, Hanisch F, Muller T, Schmidt B, Zierz S. Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Medizinisc Wochensch. 2013;163(1–2):40–44. Soliman OI, van der Beek NA, van Doorn PA, et al. Cardiac involvement in adults with Pompe disease. J Inter Med. 2008;264(4):333–339. 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 Genetics Metab. 2011;104(4):574–582. Bertoldo F, Zappini F, Brigo M, et al. Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab. 2015;100(2):401–406. Haaker G, Forst J, Forst R, Fujak A. Orthopedic management of patients with Pompe disease: a retrospective case series of 8 patients. Sci World J. 2014;2014:963861. 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 Inher Metab Dis. 2010;33(5):597–602. Hanisch F, Rahne T, Plontke SK. Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences. Int J Audiol. 2013;52(12):816–823. Laforet P, Petiot P, Nicolino M, et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology. 2008;70(22):2063–2066. 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;44(6):897–901. Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23(4):319–323. 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;30(2):111–113. 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. 2012;160C(1):22–29. Hobson-Webb LD, Austin SL, Jain S, Case LE, Greene K, Kishnani PS. Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort. Am J Case Rep. 2015;16:196–201. Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149(1):89–97. Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66(3):329–335. But WM, Lee SH, Chan AO, Lau GT. Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation. Hong Kong Med J. 2009;15(6):474–477. Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inher Metab Dis. 2010;33(6):747–750. Del Rizzo M, Fanin M, Cerutti A, et al. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inher Metab Dis. 2010;33(Suppl 3):S389–S393. Rohrbach M, Klein A, Kohli-Wiesner A, et al. CRIM-negative infantile Pompe disease: 42-month treatment outcome. J Inher Metab Dis. 2010;33(6):751–757. 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;9:133–137. 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 Genetics Metab. 2012;105(4):677–680. Cho A, Kim SJ, Lim BC, et al. Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy. J Child Neurol. 2012;27(3):319–324. Amartino HM, Cavagnari BM. [Enzyme replacement therapy in the infantile form of Pompe disease: Argentinean experience in a seven-year follow up case]. Arch Argent Pediatr. 2012;110(4):323–327. Spanish. Fathalla W, Ahmed E. The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE. JIMD Rep. 2013;8:7–10. Markic J, Polic B, Kuzmanic-Samija R, et al. Immune modulation therapy in a CRIM-positive and IgG antibody-positive infant with pompe disease treated with alglucosidase alfa: a case report. JIMD Rep. 2012;2:11–15. Markic J, Polic B, Stricevic L, et al. Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study. Wien Klin Wochenschr. 2014;126(3–4):133–137. Chien YH, Lee NC, Chen CA, et al. Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. J Pediatr. 2015;166(4):985–991, e981–e982. Hahn A, Praetorius S, Karabul N, et al. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep. 2015;20:65–75. van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJ. Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. J Inher Metab Dis. 2015;38(2):305–314. Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260(4):951–959. de Vries JM, van der Beek NA, Hop WC, et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis. 2012;7:73. Isayama R, Shiga K, Seo K, et al. Sixty six-month follow-up of muscle power and respiratory function in a case with adult-type Pompe disease treated with enzyme replacement therapy. J Clin Neuromusc Dis. 2014;15(4):152–156. Andreassen CS, Schlutter JM, Vissing J, Andersen H. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up. Mol Genetics Metab. 2014;112(1):40–43. Deroma L, Guerra M, Sechi A, et al. Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study. Eur J Pediatr. 2014;173(6):805–813. Anderson LJ, Henley W, Wyatt KM, et al. Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inher Metab Dis. 2014;37(6):945–952. Park JS, Kim HG, Shin JH, Choi YC, Kim DS. Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up. Neurol Sci Off J Italian Neurol Soc Italian Soc Clin Neurophysiol. 2015;36(4):599–605. Angelini C, Semplicini C, Ravaglia S, et al. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol. 2012;259(5):952–958. Furusawa Y, Mori-Yoshimura M, Yamamoto T, et al. Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inher Metab Dis. 2012;35(2):301–310. Orlikowski D, Pellegrini N, Prigent H, et al. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord. 2011;21(7):477–482. Bembi B, Pisa FE, Confalonieri M, et al. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inher Metab Dis. 2010;33(6):727–735. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. New Engl J Med. 2010;362(15):1396–1406. Strothotte S, Strigl-Pill N, Grunert B, et al. 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;257(1):91–97.