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Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis
Author / Creator:Schoser, Benedikt ; Stewart, Andrew ; Kanters, Steve ; Hamed, Alaa ; Jansen, Jeroen ; Chan, Keith ; Karamouzian, Mohammad ; Toscano, Antonio
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2017-04, Vol.264 (4), p.621-630
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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phas...
Author / Creator:Schoser, Benedikt ; Roberts, Mark ; Byrne, Barry J ; Sitaraman, Sheela ; Jiang, Hai ; Laforêt, Pascal ; Toscano, Antonio ; Castelli, Jeff ; Díaz-Manera, Jordi ; Goldman, Mitchell ; van der Ploeg, Ans T ; Bratkovic, Drago ; Kuchipudi, Srilakshmi ; Mozaffar, Tahseen ; Kishnani, Priya S ; Sebok, Agnes ; Pestronk, Alan ; Dominovic-Kovacevic, Aleksandra ; Khan, Aneal ; Koritnik, Blaž ; Tard, Celine ; Lindberg, Christopher ; Quinn, Colin ; Eldridge, Crystal ; Bodkin, Cynthia ; Reyes-Leiva, David ; Hughes, Derralynn ; Stefanescu, Ela ; SALORT-CAMPANA, Emmanuelle ; Butler, Ernest ; Bouhour, Francoise ; Kim, Gee ; Konstantinos Papadimas, George ; Parenti, Giancarlo ; Bartosik-Psujek, Halina ; Kushlaf, Hani ; Akihiro, Hashiguchi ; Lau, Heather ; Pedro, Helio ; Andersen, Henning ; Amartino, Hernan ; Shiraishi, Hideaki ; Kobayashi, Hiroshi ; Tarnev, Ivaylo ; Vengoechea, Jaime ; Avelar, Jennifer ; Shin, Jin-Hong ; Cauci, Jonathan ; Alonso-Pérez, Jorge ; Janszky, Jozsef ; Berthy, Julie ; Cornelia, Kornblum ; Gutschmidt, Kristina ; Claeys, Kristl ; Judit Molnar, Maria ; Wencel, Marie ; Tarnopolsky, Mark ; Dimachkie, Mazen ; Tchan, Michel ; Freimer, Miriam ; Longo, Nicola ; Vidal-Fernandez, Nuria ; Musumeci, Olimpia ; Goker-Alpan, Ozlem ; Deegan, Patrick ; Clemens, Paula R. ; Roxburgh, Richard ; Henderson, Robert ; Hopkin, Robert ; Sacconi, Sabrina ; Fecarotta, Simona ; Attarian, Shahram ; Wenninger, Stephan ; Dearmey, Stephanie ; Hiwot, Tarekegn ; Burrow, Thomas ; Ruck, Tobias ; Sawada, Tomo ; Laszlo, Vescei ; Löscher, Wolfgang ; Chien, Yin-Hsiu
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2021-12, Vol.20 (12), p.1027-1037
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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
Author / Creator:Cohen, Jennifer L. ; Chakraborty, Pranesh ; Fung-Kee-Fung, Karen ; Schwab, Marisa E. ; Bali, Deeksha ; Young, Sarah P. ; Gelb, Michael H. ; Khaledi, Hamid ; DiBattista, Alicia ; Smallshaw, Stacey ; Moretti, Felipe ; Wong, Derek ; Lacroix, Catherine ; El Demellawy, Dina ; Strickland, Kyle C. ; Lougheed, Jane ; Moon-Grady, Anita ; Lianoglou, Billie R. ; Harmatz, Paul ; Kishnani, Priya S. ; MacKenzie, Tippi C.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2022-12, Vol.387 (23), p.2150-2158
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Cipaglucosidase Alfa: First Approval
Author / Creator:Blair, Hannah A.
Publisher:Cham: Springer International Publishing
Journal title:Drugs (New York, N.Y.), 2023-06, Vol.83 (8), p.739-745
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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
Author / Creator:van der Ploeg, Ans T ; Clemens, Paula R ; Corzo, Deyanira ; Escolar, Diana M ; Florence, Julaine ; Groeneveld, Geert Jan ; Herson, Serge ; Kishnani, Priya S ; Laforet, Pascal ; Lake, Stephen L ; Lange, Dale J ; Leshner, Robert T ; Mayhew, Jill E ; Morgan, Claire ; Nozaki, Kenkichi ; Park, Dorothy J ; Pestronk, Alan ; Rosenbloom, Barry ; Skrinar, Alison ; van Capelle, Carine I ; van der Beek, Nadine A ; Wasserstein, Melissa ; Zivkovic, Sasa A
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-04, Vol.362 (15), p.1396-1406
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Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis
Author / Creator:Sarah, Berli ; Giovanna, Brandi ; Emanuela, Keller ; Nadi, Najia ; Josè, Vitale ; Alberto, Pagnamenta
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-02, Vol.269 (2), p.733-741
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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct...
Author / Creator:Li, Cindy ; Desai, Ankit K. ; Gupta, Punita ; Dempsey, Katherine ; Bhambhani, Vikas ; Hopkin, Robert J. ; Ficicioglu, Can ; Tanpaiboon, Pranoot ; Craigen, William J. ; Rosenberg, Amy S. ; Kishnani, Priya S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-05, Vol.23 (5), p.845-855
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Avalglucosidase alfa: First Approval
Author / Creator:Dhillon, Sohita
Publisher:Cham: Springer International Publishing
Journal title:Drugs (New York, N.Y.), 2021-10, Vol.81 (15), p.1803-1809
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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature
Author / Creator:Khan, Aleena A. ; Case, Laura E. ; Herbert, Mrudu ; DeArmey, Stephanie ; Jones, Harrison ; Crisp, Kelly ; Zimmerman, Kanecia ; ElMallah, Mai K. ; Young, Sarah P. ; Kishnani, Priya S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.898-907
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ArticlesPeer ReviewedFull Text
Pompe's disease
Author / Creator:van der Ploeg, Ans T, Dr ; Reuser, Arnold JJ, PhD
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2008-10, Vol.372 (9646), p.1342-1353
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Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study
Author / Creator:Zhang, Huanyu ; Chen, Shanquan ; Xu, Richard Huan ; Yu, Siyue ; Yu, Jiazhou ; Dong, Dong
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-09, Vol.19 (9), p.e0310534
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ArticlesPeer ReviewedFull Text
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
Author / Creator:Schoser, Benedikt ; Beek, Nadine A. M. E. ; Broomfield, Alexander ; Brusse, Esther ; Diaz‐Manera, Jordi ; Hahn, Andreas ; Hundsberger, Thomas ; Kornblum, Cornelia ; Kruijshaar, Michelle ; Laforet, Pascal ; Mengel, Eugen ; Mongini, Tiziana ; Orlikowski, David ; Parenti, Giancarlo ; Pijnappel, W. W. M. Pim ; Roberts, Mark ; Scherer, Thomas ; Toscano, Antonio ; Vissing, John ; Hout, Johanna M. P. ; Doorn, Pieter A. ; Wenninger, Stephan ; Ploeg, Ans T.
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-09, Vol.31 (9), p.e16383-n/a
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Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ec...
Author / Creator:Kruijshaar, Michelle E ; House, Tiffany ; Schoser, Benedikt ; Laforêt, Pascal ; Theunissen, Maudy T M ; Wenninger, Stephan ; Hundsberger, Thomas ; Diaz-Manera, Jordi ; van der Ploeg, Ans T ; van der Beek, Nadine A M E
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.74-4, Article 74
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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
Author / Creator:Stockton, David W. ; Kishnani, Priya ; van der Ploeg, Ans ; Llerena, Juan ; Boentert, Matthias ; Roberts, Mark ; Byrne, Barry J. ; Araujo, Roberto ; Maruti, Sonia S. ; Thibault, Nathan ; Verhulst, Karien ; Berger, Kenneth I.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-10, Vol.267 (10), p.3038-3053
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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Author / Creator:Tard, Céline ; Bouhour, Françoise ; Michaud, Maud ; Beltran, Stephane ; Fournier, Maxime ; Demurger, Florence ; Lagrange, Emmeline ; Nollet, Sylvain ; Sacconi, Sabrina ; Noury, Jean‐Baptiste ; Magot, Armelle ; Cintas, Pascal ; Renard, Dimitri ; Deibener‐Kaminsky, Joëlle ; Lefeuvre, Claire ; Davion, Jean‐Baptiste ; Salort‐Campana, Emmanuelle ; Arrassi, Azzeddine ; Taouagh, Nadjib ; Spinazzi, Marco ; Orlikowski, D ; Masingue, M ; Stojkovic, T ; Béhin, A ; Garcia, PY ; Lallement, F ; Bassez, G ; Germain, D ; Kouton, L ; Verschueren, A ; Furby, A ; Kaminsky, AL ; Lacour, A ; Praline, J ; Sole, G ; Duval, F ; Bouibede, F ; Chapon, F ; Minot, MC ; Hubert, J ; Pereon, Y ; Acket, B ; Nadaj‐Pakleza, A ; Morales, RJ ; Esselin, F ; Petiot, P ; Jaussaud, R ; Mohamed, S ; Echaniz‐Laguna, YA ; Magy, L ; Krim, E ; Taithe, F ; Bedat‐Millet, AL ; Toquet, S ; Diab, E ; Maillet‐Vioud, M ; Attarian, Shahram ; Laforêt, Pascal
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-07, Vol.31 (7), p.e16292-n/a
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Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
Author / Creator:Yang, Chia-Feng ; Liao, Ting-Wei Ernie ; Chu, Yen-Ling ; Chen, Li-Zhen ; Huang, Ling-Yi ; Yang, Tsui-Feng ; Ho, Hui-Chen ; Kao, Shu-Min ; Niu, Dau-Ming
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-05, Vol.60 (5), p.430-439
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Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Author / Creator:Carlier, Pierre G. ; Azzabou, Noura ; de Sousa, Paulo Loureiro ; Hicks, Arnaud ; Boisserie, Jean-Marc ; Amadon, Alexis ; Carlier, Robert-Yves ; Wary, Claire ; Orlikowski, David ; Laforêt, Pascal
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.565-572
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Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease
Author / Creator:Ertoy Karagol, Hacer Ilbilge ; Inci, Asli ; Terece, Sinem Polat ; Kilic, Ayse ; Demir, Fevzi ; Yapar, Dilek ; Koken, Gizem ; Okur, Ilyas ; Ezgu, Fatih Suheyl ; Tumer, Leyla ; Bakirtas, Arzu
Publisher:Basel, Switzerland: S. Karger AG
Journal title:International archives of allergy and immunology, 2023-04, Vol.184 (4), p.370-375
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
Author / Creator:Banugaria, Suhrad G ; Prater, Sean N ; Ng, Yiu-Ki ; Kobori, Joyce A ; Finkel, Richard S ; Ladda, Roger L ; Chen, Yuan-Tsong ; Rosenberg, Amy S ; Kishnani, Priya S
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2011-08, Vol.13 (8), p.729-736
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Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Author / Creator:Kishnani, Priya S ; Kronn, David ; Suwazono, Shugo ; Broomfield, Alexander ; Llerena, Juan ; Al-Hassnan, Zuhair Nasser ; Batista, Julie L ; Wilson, Kathryn M ; Periquet, Magali ; Daba, Nadia ; Hahn, Andreas ; Chien, Yin-Hsiu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.381-381, Article 381
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Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phas...

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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

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Cipaglucosidase Alfa: First Approval

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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

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Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct...

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Avalglucosidase alfa: First Approval

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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

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Pompe's disease

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Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study

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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024

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Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ec...

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

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Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

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Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

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Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

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Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

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