Muller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17:698–706.
PubMed
Google Scholar
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;158:1023–7. e1021.
PubMed
Google Scholar
Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379:335–41.
PubMed
Google Scholar
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109.
CAS
PubMed
Google Scholar
Gungor D, Kruijshaar ME, Plug I, D'Agostino Sr RB, Hagemans ML, van Doorn PA, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49.
PubMed
PubMed Central
Google Scholar
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45:319–33.
PubMed
Google Scholar
Llerena Jr JC, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, et al. The Brazilian consensus on the management of Pompe disease. J Pediatr. 2009;155:S47–56.
PubMed
Google Scholar
Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, et al. Management and treatment of glycogenosis type II. Neurology. 2008;71:S12–36.
CAS
PubMed
Google Scholar
Pompe JC. Over idiopathische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304–12.
Google Scholar
Cori GT. Glycogen structure and enzyme deficiencies in glycogen storage disease. Harvey Lect. 1954;48:145–71.
Google Scholar
de Duve C, Pressman BC, Gianetto R, Wattiaux R, Appelmans F. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem J. 1955;60:604–17.
PubMed Central
Google Scholar
Appelmans F, Wattiaux R, de Duve C. Tissue fractionation studies. 5. The association of acid phosphatase with a special class of cytoplasmic granules in rat liver. Biochem J. 1955;59(3):438–45.
CAS
PubMed
PubMed Central
Google Scholar
Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe’s disease). Biochem J. 1963;86:11–6.
CAS
PubMed
PubMed Central
Google Scholar
Baudhuin P, Hers HG, Loeb H. An electron microscopic and biochemical study of type Ii Glycogenosis. Lab Invest. 1964;13:1139–52.
CAS
PubMed
Google Scholar
Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher’s disease. N Engl J Med. 1974;291:989–93.
CAS
PubMed
Google Scholar
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 1991;324:1464–70.
CAS
PubMed
Google Scholar
Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, Reuser AJ. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J Clin Invest. 1991;87:513–8.
PubMed
PubMed Central
Google Scholar
Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med. 2001;3:132–8.
CAS
PubMed
Google Scholar
Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT. Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis. 2001;24:266–74.
PubMed
Google Scholar
Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448–57.
PubMed
Google Scholar
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89–97.
CAS
PubMed
PubMed Central
Google Scholar
Owens J. 2006 drug approvals: finding the niche. Nat Rev Drug Discov. 2007;6:99–101.
CAS
PubMed
Google Scholar
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362:1396–406.
PubMed
Google Scholar
Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, 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;257:91–7.
CAS
PubMed
Google Scholar
Leslie N, Tinkle BT. Glycogen Storage Disease Type II (Pompe Disease). In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. Gene reviews. Seattle (WA): University of Washington, Seattle; 1993.
Google Scholar
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12:87–92.
PubMed
Google Scholar
Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency. In: Wonsiewicz MNS, Boyle P, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 3389–420.
Google Scholar
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7:713–6.
CAS
PubMed
Google Scholar
Al-Jasmi FA, Tawfig N, Berniah A, Ali BR, Taleb M, Hertecant JL, et al. Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates: LSD in UAE. JIMD Rep. 2013;10:1–9.
PubMed
PubMed Central
Google Scholar
Hamamy H. Consanguineous marriages: preconception consultation in primary health care settings. J Community Genet. 2012;3:185–92.
PubMed
Google Scholar
Honig J, Martiniuk F, D'Eustachio P, Zamfirescu C, Desnick R, Hirschhorn K, et al. Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization. Ann Hum Genet. 1984;48:49–56.
CAS
PubMed
Google Scholar
Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Hum Genet. 1996;97:404–6.
CAS
PubMed
Google Scholar
Martiniuk F, Mehler M, Pellicer A, Tzall S, La Badie G, Hobart C, et al. Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci U S A. 1986;83:9641–4.
CAS
PubMed
PubMed Central
Google Scholar
McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, et al. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. Mol Genet Metab. 2007;92:325–35.
CAS
PubMed
Google Scholar
van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis. 2012;7:88.
PubMed
PubMed Central
Google Scholar
Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008;38:1236–45.
PubMed
Google Scholar
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain. 2005;128:671–7.
CAS
PubMed
Google Scholar
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;160:80–8.
Google Scholar
Spada M, Porta F, Vercelli L, Pagliardini V, Chiado-Piat L, Boffi P, et al. Screening for later-onset Pompe’s disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab. 2013;109:171–3.
CAS
PubMed
Google Scholar
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;44:897–901.
PubMed
Google Scholar
Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23:319–23.
PubMed
Google Scholar
Soliman OI, van der Beek NA, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, et al. Cardiac involvement in adults with Pompe disease. J Intern Med. 2008;264:333–9.
CAS
PubMed
Google Scholar
Laforet P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology. 2008;70:2063–6.
CAS
PubMed
Google Scholar
Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol. 2010;257:1730–3.
PubMed
Google Scholar
Musumeci O, Catalano N, Barca E, Ravaglia S, Fiumara A, Gangemi G, et al. Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. Mol Genet Metab. 2012;107:480–4.
CAS
PubMed
Google Scholar
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;52:816–23.
CAS
PubMed
Google Scholar
van den Berg LE, Zandbergen AA, van Capelle CI, de Vries JM, Hop WC, van den Hout JM, et al. Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone. 2010;47:643–9.
PubMed
Google Scholar
Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, et al. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol. 2015;262:968–78.
CAS
PubMed
Google Scholar
Gutierrez-Rivas E, Bautista J, Vilchez JJ, Muelas N, Diaz-Manera J, Illa I, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. Neuromuscul Disord. 2015;25:548–53.
CAS
PubMed
Google Scholar
Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013;110:287–9.
CAS
PubMed
Google Scholar
Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52:851–3.
CAS
PubMed
Google Scholar
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267–88.
PubMed
PubMed Central
Google Scholar
American Thoracic Society. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166:518–624.
Google Scholar
Prigent H, Orlikowski D, Laforet P, Letilly N, Falaize L, Pellegrini N, et al. Supine volume drop and diaphragmatic function in adults with Pompe disease. Eur Respir J. 2012;39:1545–6.
PubMed
Google Scholar
Shah DU, Darras BT, Markowitz JA, Jones Jr HR, Kang PB. The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. Pediatr Neurol. 2012;47:97–100.
PubMed
Google Scholar
Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93:275–81.
CAS
PubMed
Google Scholar
Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem. 2001;47:1378–83.
CAS
PubMed
Google Scholar
Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, et al. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat. 2012;33:1161–5.
PubMed
Google Scholar
Baethmann M, Straub V, Reuser A. Pompe disease. Uni-Med Science: Bremen; 2008.
Google Scholar
Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. 2005;252:875–84.
PubMed
Google Scholar
Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord. 2011;21:791–9.
PubMed
Google Scholar
Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, et al. Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab. 2013;110:290–6.
CAS
PubMed
Google Scholar
Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013;260:951–9.
CAS
PubMed
Google Scholar
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11:210–9.
CAS
PubMed
Google Scholar
Deegan PB, Cox TM, Waldek S, Lachmann R, Ramaswami U, Jessop E: Guidelines for the Investigation and Management of Late Onset Acid Maltase Deficiency (Type II Glycogen Storage Disease / Pompe Disease). [http://www.specialisedservices.nhs.uk/library/23/Guidelines_for_Late_Onset_Pompe_Disease.pdf]
Corporation G. Lumizyme prescibing information. Cambridge: MA, USA; 2010.
Google Scholar
Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45. London, UK: Her Majesty’s Stationary Office; 1976.
Google Scholar
Beenakker EA, van der Hoeven JH, Fock JM, Maurits NM. Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry. Neuromuscul Disord. 2001;11:441–6.
CAS
PubMed
Google Scholar
American Thoracic Society. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166:111–7.
Google Scholar
Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004;63:1688–92.
CAS
PubMed
Google Scholar
Gungor D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, et al. Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab. 2013;109:371–6.
CAS
PubMed
Google Scholar
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;106:301–9.
CAS
PubMed
Google Scholar
Sabbah I, Drouby N, Sabbah S, Retel-Rude N, Mercier M. Quality of life in rural and urban populations in Lebanon using SF-36 health survey. Health Qual Life Outcomes. 2003;1:30.
PubMed
PubMed Central
Google Scholar
Montazeri A, Goshtasebi A, Vahdaninia M, Gandek B. The Short Form Health Survey (SF-36): translation and validation study of the Iranian version. Qual Life Res. 2005;14:875–82.
PubMed
Google Scholar
Mehraban D, Naderi G, Salehi M. Development of SF-36 questionnaire in the measurement of quality of life in patients on renal replacement therapy in Iran. Saudi J Kidney Dis Transpl. 2003;14:15–7.
PubMed
Google Scholar
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26–33.
CAS
PubMed
PubMed Central
Google Scholar
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13:729–36.
CAS
PubMed
PubMed Central
Google Scholar
Arad M, Maron BJ, Gorham JM, Johnson Jr WH, Saul JP, Perez-Atayde AR, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362–72.
CAS
PubMed
Google Scholar
Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab. 2010;101:130–3.
CAS
PubMed
Google Scholar
Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS. Quantitative assessment of lingual strength in late-onset Pompe disease. Muscle Nerve. 2015;51:731–5.
PubMed
Google Scholar
Ravaglia S, Danesino C, Moglia A, Costa A, Cena H, Maccarini L, et al. Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis. Eur J Neurol. 2010;17:957–62.
CAS
PubMed
Google Scholar
Mobarhan S, Pintozzi RL, Damle P, Friedman H. Treatment of acid maltase deficiency with a diet high in branched-chain amino acids. JPEN J Parenter Enteral Nutr. 1990;14:210–2.
CAS
PubMed
Google Scholar
Bodamer OA, Halliday D, Leonard JV. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000;55:710–2.
CAS
PubMed
Google Scholar
Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64:2139–41.
CAS
PubMed
Google Scholar
Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007;35:70–7.
CAS
PubMed
Google Scholar
Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011;104:279–83.
CAS
PubMed
Google Scholar
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;107:669–73.
CAS
PubMed
Google Scholar
Papadimas G, Terzis G, Papadopoulos C, Areovimata A, Spengos K, Kavouras S, et al. Bone density in patients with late onset Pompe disease. Int J Endocrinol Metab. 2012;10:599–603.
PubMed
PubMed Central
Google Scholar
Papadimas GK, Terzis G, Methenitis S, Spengos K, Papadopoulos C, Vassilopoulou S, et al. Body composition analysis in late-onset Pompe disease. Mol Genet Metab. 2011;102:41–3.
CAS
PubMed
Google Scholar
Refai D, Lev R, Cross DT, Shimony JS, Leonard JR. Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease. Surg Neurol. 2008;70:518–20.
PubMed
Google Scholar
El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, et al. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab. 2011;103:362–6.
CAS
PubMed
Google Scholar
Cilliers HJ, Yeo ST, Salmon NP. Anaesthetic management of an obstetric patient with Pompe disease. Int J Obstet Anesth. 2008;17:170–3.
CAS
PubMed
Google Scholar
EMA. Myozyme: EPAR - Product Information. [http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000636/WC500032125.pdf]
de Vries JM, Brugma JD, Ozkan L, Steegers EA, Reuser AJ, van Doorn PA, et al. First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab. 2011;104:552–5.
PubMed
Google Scholar
Zhu Y, Li X, McVie-Wylie A, Jiang C, Thurberg BL, Raben N, 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;389:619–28.
CAS
PubMed
PubMed Central
Google Scholar
ClinicalTrials.gov. Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. [http://clinicaltrials.gov/show/NCT01898364]
Maga JA, Zhou J, Kambampati R, Peng S, Wang X, Bohnsack RN, et al. Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in pompe mice. J Biol Chem. 2013;288:1428–38.
CAS
PubMed
Google Scholar
BioMarin. Pompe Clinical Trials. [https://www.bmrn.com/pipeline/clinical-trials/pompe.php]
Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, et al. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther. 2009;17:964–71.
CAS
PubMed
PubMed Central
Google Scholar
Lun Y, Feng J, Xu S, Soska R, Frascella M, Garcia A, et al. Exploring the Use of a Co-formulated Pharmacological Chaperone AT2220 with Recombinant Acid Alpha-Glucosidase for Pompe Disease. In: Proceedings of the LDN World 2013; Orlando, USA. 2013.
Google Scholar
Kishnani P, Tarnopolsky M, Byrne B, Sivakumar K, Roberts M, Finanger E, et al. Phase 2a Study to Investigate Drug-Drug Interactions between Escalating Doses of AT2220 (Duvoglustat Hydrochloride) and Acid Alfa-Glucosidase in Subjects with Pompe Disease. In: Proceedings of the LDN WORLD 2013; Orlando, USA. 2013.
Google Scholar
Amicus Therapeutics: Amicus Therapeutics Begins Phase 2 Clinical Trial of AT2220 in Pompe Disease. [http://ir.amicustherapeutics.com/releasedetail.cfm?ReleaseID=313541]
Amicus Therapeutics: Amicus Therapeutics Suspends Enrollment for Phase 2 Clinical Trial of AT2220 for Pompe Disease. [http://ir.amicustherapeutics.com/releasedetail.cfm?ReleaseID=368188]
Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. 2011;20:R61–8.
CAS
PubMed
PubMed Central
Google Scholar
Zhang P, Sun B, Osada T, Rodriguiz R, Yang XY, Luo X, et al. Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease. Hum Gene Ther. 2012;23:460–72.
PubMed
PubMed Central
Google Scholar
Smith BK, Collins SW, Conlon TJ, Mah CS, Lawson LA, Martin AD, et al. Phase I/II 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;24:630–40.
CAS
PubMed
PubMed Central
Google Scholar
AANEM. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40:149–60.
Google Scholar