Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review
- 2.9k Downloads
Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment of LOPD patients—published up to January 2012—were identified by electronic searching of the EMBASE and MEDLINE databases, and manual searching of the reference lists. Data on ERT outcomes were extracted from selected papers and analyzed descriptively. No statistical analysis was performed owing to data heterogeneity. Twenty-one studies containing clinical data from 368 LOPD patients were analyzed. Overall, at least two-thirds of patients were stabilized or had improved creatine kinase levels and muscular and/or respiratory function following treatment with alglucosidase alfa. ERT was well tolerated; most adverse events were mild or moderate infusion-related reactions. In conclusion, alglucosidase alfa treatment is effective and well tolerated and attenuates progression of LOPD in most patients. Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients.
KeywordsLate-onset Pompe disease (LOPD) Glycogen storage disease type 2 Enzyme replacement therapy Alglucosidase alfa Systematic review
This study was funded by Genzyme Europe. The authors received editorial/writing support in the preparation of this manuscript from Alessia Piazza, PhD, of Excerpta Medica, funded by Genzyme Europe.
Conflicts of interest
AT and BS are members of the Pompe Global Advisory Board, sustained by Genzyme, and received reimbursement for participation to the board meetings and invited lectures.
- 2.Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A, The Italian GSDII Group (2011) Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 259:952–958. doi: 10.1007/s00415-011-6293-5 PubMedCrossRefGoogle Scholar
- 4.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 (2010) Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis 33:727–735PubMedCrossRefGoogle Scholar
- 5.Byrne B, Barshop B, Barohn R, Falk L, Fox M, Lang W, Lossius M, McCarthy S, Vora J, LeBowitz J (2012) POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: preliminary report. Mol Genet Metab 105(2):S24Google Scholar
- 10.Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M (2012) Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. J Inherit Metab Dis 35:301–310PubMedCrossRefGoogle Scholar
- 14.Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT (2006) Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 149:89–97PubMedCrossRefGoogle Scholar
- 17.Mah CS, Falk DJ, Germain SA, Kelley JS, Lewis MA, Cloutier DA, DeRuisseau LR, Conlon TJ, Cresawn KO, Fraites TJ Jr, Campbell-Thompson M, Fuller DD, Byrne BJ (2010) Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease. Mol Ther 18:502–510PubMedCrossRefGoogle Scholar
- 21.Papadimas GK, Spengos K, Konstantinopoulou A, Vassilopoulou S, Vontzalidis A, Papadopoulos C, Michelakakis H, Manta P (2011) Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Clin Neurol Neurosurg 113:303–307PubMedCrossRefGoogle Scholar
- 24.Ravaglia S, Danesino C, Moglia A, Costa A, Cena H, Maccarini L, Carlucci A, Pichiecchio A, Bini P, De Filippi P, Rossi M (2010) Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis. Eur J Neurol 17:957–962PubMedCrossRefGoogle Scholar
- 25.Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni GU, Toscano A, Moglia A, Carlucci A, Bini P, Ceroni M, Bastianello S (2010) Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis 33:737–745PubMedCrossRefGoogle Scholar
- 26.Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B (2012) 36 months observational clinical study of 38 adult Pompe patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. doi: 10.1007/s10545-012-9451-8
- 27.Rossi M, Parenti G, Della Casa R, Romano A, Mansi G, Agovino T, Rosapepe F, Vosa C, Del Giudice E, Andria G (2007) Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. J Child Neurol 22:565–573PubMedCrossRefGoogle Scholar
- 30.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 (2010) 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 257:91–97PubMedCrossRefGoogle Scholar
- 33.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 (2010) Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord 20:775–782PubMedCrossRefGoogle Scholar
- 35.van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406PubMedCrossRefGoogle Scholar
- 37.Winkel LP, van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, van Doorn PA, de Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, van der Ploeg AT (2004) Enzyme replacement therapy in late-onset Pompe’s disease: a three-year follow-up. Ann Neurol 55:495–502PubMedCrossRefGoogle Scholar
- 40.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 (2009) 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 17:954–963PubMedCrossRefGoogle Scholar