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838 results on '"Van der Ploeg, Ans T."'

1. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

Author

Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose’, Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A. M. E., Del Toro Riera, Mireja, Germain, Dominique P., Huidekoper, Hidde, van den Hout, Johanna M. P., and van der Ploeg, Ans T.

Published
2024
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3. 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Author

Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans T., Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, and Mozaffar, Tahseen

Published
2024
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4. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)

Author

Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, and Mozaffar, Tahseen

Published
2024
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12. Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II

Author

Catalano, Fabio, Vlaar, Eva C., Katsavelis, Drosos, Dammou, Zina, Huizer, Tessa F., van den Bosch, Jeroen C., Hoogeveen-Westerveld, Marianne, van den Hout, Hannerieke J.M.P., Oussoren, Esmeralda, Ruijter, George J.G., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J.T., van der Ploeg, Ans T., and Pijnappel, W.W.M. Pim

Published
2023
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15. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Author

Reuser, Arnold JJ, van der Ploeg, Ans T, Chien, Yin-Hsiu, Llerena, Juan, Abbott, Mary-Alice, Clemens, Paula R, Kimonis, Virginia E, Leslie, Nancy, Maruti, Sonia S, Sanson, Bernd-Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S, and On Behalf Of The Pompe Registry Sites

Subjects
Humans, Glycogen Storage Disease Type II, Genetic Predisposition to Disease, alpha-Glucosidases, Registries, Genotype, Phenotype, Mutation, Alleles, Databases, Genetic, Genetic Variation, Genetic Loci, Genetic Association Studies, Global Health, GAA genotypes, GAA variants, Pompe disease, Pompe Registry, acid α-glucosidase, acid alpha-glucosidase, Pompe disease, Pompe Registry, Databases, Genetic, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry, a long-term, observational program and the largest global repository of Pompe disease data. Variant information was reviewed and compared with publicly available GAA databases/resources. Among 1,079 eligible patients, 2,075 GAA variants (80 unique novel) were reported. Variants were listed by groups representing Pompe disease phenotypes. Patients were classified as Group A: Symptom onset ≤ 12 months of age with cardiomyopathy; Group B: Symptom onset ≤ 12 years of age (includes patients with symptom onset ≤ 12 months of age without cardiomyopathy); or Group C: Symptom onset > 12 years of age. Likely impact of novel variants was predicted using bioinformatics algorithms. Variants were classified by pathogenicity using ACMG guidelines. Data reported from the Pompe Registry provide new information about the distribution of GAA variants globally and across the clinical spectrum, add to the number and diversity of GAA variants registered in public databases through published data sharing, provide a first indication of the severity of novel variants, and assist in diagnostic practice and outcome prediction.

Published
2019

19. Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Author

Byrne, Barry J., Parenti, Giancarlo, Schoser, Benedikt, van der Ploeg, Ans T., Do, Hung, Fox, Brian, Goldman, Mitchell, Johnson, Franklin K., Kang, Jia, Mehta, Nickita, Mondick, John, Sheikh, M. Osman, Sitaraman Das, Sheela, Tuske, Steven, Brudvig, Jon, Weimer, Jill M., and Mozaffar, Tahseen

Subjects
GLYCOGEN storage disease type II, ENZYME replacement therapy, LYSOSOMAL storage diseases, PATIENT experience, ENZYME activation, GLYCANS
Abstract

Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α -glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. First-generation recombinant human GAA (rhGAA) ERT (alglucosidase alfa) can slow the progressive muscle degeneration characteristic of the disease. Still, most patients experience diminished efficacy over time, possibly because of poor uptake into target tissues. Next-generation ERTs aim to address this problem by increasing bis-phosphorylated high mannose (bis-M6P) N -glycans on rhGAA as these moieties have sufficiently high receptor binding affinity at the resultant low interstitial enzyme concentrations after dosing to drive uptake by the cation-independent mannose 6-phosphate receptor on target cells. However, some approaches introduce bis-M6P onto rhGAA via non-natural linkages that cannot be hydrolyzed by natural human enzymes and thus inhibit the endolysosomal glycan trimming necessary for complete enzyme activation after cell uptake. Furthermore, all rhGAA ERTs face potential inactivation during intravenous delivery (and subsequent non-productive clearance) as GAA is an acid hydrolase that is rapidly denatured in the near-neutral pH of the blood. One new therapy, cipaglucosidase alfa plus miglustat, is hypothesized to address these challenges by combining an enzyme enriched with naturally occurring bis-M6P N -glycans with a small-molecule stabilizer. Here, we investigate this hypothesis by analyzing published and new data related to the mechanism of action of the enzyme and stabilizer molecule. Based on an extensive collection of in vitro , preclinical, and clinical data, we conclude that cipaglucosidase alfa plus miglustat successfully addresses each of these challenges to offer meaningful advantages in terms of pharmacokinetic exposure, target-cell uptake, endolysosomal processing, and clinical benefit. [ABSTRACT FROM AUTHOR]

Published
2025
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20. Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale.

Author

van Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, van Doorn, Pieter A., van der Ploeg, Ans T., van der Beek, Nadine A. M. E., and van Kooten, H. A

Subjects
GLYCOGEN storage disease type II, EXPLORATORY factor analysis, RASCH models, PSYCHOMETRICS, PRACTICE (Sports)
Abstract

Background and purpose: The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use in Dutch‐ and English‐speaking countries. This study aimed to validate the R‐PAct for use in other countries. Methods: Four other language versions (German, French, Italian, and Spanish) of the R‐PAct were created and distributed among Pompe patients (≥16 years old) in Germany, France, Spain, Italy, and Switzerland and pooled with data of newly diagnosed patients from Australia, Belgium, Canada, the Netherlands, New Zealand, the USA, and the UK and the original validation cohort (n = 186). The psychometric properties of the scale were assessed by exploratory factor analysis and Rasch analysis. Results: Data for 520 patients were eligible for analysis. Exploratory factor analysis suggested that the items separated into two domains: Activities of Daily Living and Mobility. Both domains independently displayed adequate Rasch model measurement properties, following the removal of one item ("Are you able to practice a sport?") from the Mobility domain, and can be added together to form a "higher order" factor as well. Differential item functioning (DIF)‐by‐language assessment indicated DIF for several items; however, the impact of accounting for DIF was negligible. We recalibrated the nomogram (raw score interval‐level transformation) for the updated 17‐item R‐PAct scale. The minimal detectable change value was 13.85 for the overall R‐PAct. Conclusions: After removing one item, the modified‐R‐PAct scale is a valid disease‐specific patient‐reported outcome measure for patients with Pompe disease across multiple countries. [ABSTRACT FROM AUTHOR]

Published
2024
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23. 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, phase 3 trial

Author

Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, 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, 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, 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, and Kishnani, Priya S

Published
2021
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24. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt

Published
2021
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26. Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Author

Byrne, Barry J., Parenti, Giancarlo, Schoser, Benedikt, van der Ploeg, Ans T., Hung Do, Fox, Brian, Goldman, Mitchell, Johnson, Franklin K., Jia Kang, Mehta, Nickita, Mondick, John, Sheikh, M. Osman, Das, Sheela Sitaraman, Tuske, Steven, Brudvig, Jon, Weimer, Jill M., and Mozaffar, Tahseen

Subjects
GLYCOGEN storage disease type II, ENZYME replacement therapy, LYSOSOMAL storage diseases, PATIENT experience, ENZYME activation, METABOLIC disorders, GLYCANS
Abstract

Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. First-generation recombinant human GAA (rhGAA) ERT (alglucosidase alfa) can slow the progressive muscle degeneration characteristic of the disease. Still, most patients experience diminished efficacy over time, possibly because of poor uptake into target tissues. Next-generation ERTs aim to address this problem by increasing bis-phosphorylated high mannose (bis-M6P) N-glycans on rhGAA as these moieties have sufficiently high receptor binding affinity at the resultant low interstitial enzyme concentrations after dosing to drive uptake by the cationindependent mannose 6-phosphate receptor on target cells. However, some approaches introduce bis-M6P onto rhGAA via non-natural linkages that cannot be hydrolyzed by natural human enzymes and thus inhibit the endolysosomal glycan trimming necessary for complete enzyme activation after cell uptake. Furthermore, all rhGAA ERTs face potential inactivation during intravenous delivery (and subsequent non-productive clearance) as GAA is an acid hydrolase that is rapidly denatured in the near-neutral pH of the blood. One new therapy, cipaglucosidase alfa plus miglustat, is hypothesized to address these challenges by combining an enzyme enriched with naturally occurring bis-M6P N-glycans with a small-molecule stabilizer. Here, we investigate this hypothesis by analyzing published and new data related to the mechanism of action of the enzyme and stabilizer molecule. Based on an extensive collection of in vitro, preclinical, and clinical data, we conclude that cipaglucosidase alfa plus miglustat successfully addresses each of these challenges to offer meaningful advantages in terms of pharmacokinetic exposure, target-cell uptake, endolysosomal processing, and clinical benefit. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Author

in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., and Pijnappel, W.W.M. Pim

Published
2020
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33. Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Author

Byrne, Barry J., Parenti, Giancarlo, Schoser, Benedikt, van der Ploeg, Ans T., Do, Hung, Fox, Brian, Goldman, Mitchell, Johnson, Franklin K., Kang, Jia, Mehta, Nickita, Mondick, John, Sheikh, M. Osman, Sitaraman Das, Sheela, Tuske, Steven, Brudvig, Jon, Weimer, Jill M., and Mozaffar, Tahseen

Subjects
GLYCOGEN storage disease type II, LYSOSOMAL storage diseases, ENZYME replacement therapy, TREATMENT effectiveness, SCHOLARLY periodical corrections
Abstract

The correction notice in the journal "Frontiers in Neurology" addresses an error in Figure 13 of an article on late-onset Pompe disease. The error pertains to the axis scale for lower MMT score and GSGC total score, which has been corrected in the updated figure. The authors acknowledge the mistake but clarify that it does not impact the scientific conclusions of the article. The correction was made by Barry J. Byrne, Giancarlo Parenti, Benedikt Schoser, and other authors listed in the document. [Extracted from the article]

Published
2025
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36. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

Author

Dimachkie, Mazen M., Barohn, Richard J., Byrne, Barry, Goker-Alpan, Ozlem, Kishnani, Priya S., Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Peña, Loren D.M., Sacconi, Sabrina, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, van der Ploeg, Ans T., Vissing, John, Young, Peter, Haack, Kristina An, Foster, Meredith, Gilbert, Jane M., Miossec, Patrick, Vitse, Olivier, Zhou, Tianyue, and Schoser, Benedikt

Published
2022
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37. Neurofilament light protein as a biomarker for spinal muscular atrophy: A review and reference ranges

Author

CTI Nierkens, Infection & Immunity, Bayoumy, Sherif, Verberk, Inge M.W., Vermunt, Lisa, Willemse, Eline, Den Dulk, Ben, Van Der Ploeg, Ans T., Pajkrt, Dasja, Nitz, Elisa, Van Den Hout, Johanna M.P., Van Der Post, Julie, Wolf, Nicole I., Beerepoot, Shanice, Groen, Ewout J.N., Tüngler, Victoria, Teunissen, Charlotte E., CTI Nierkens, Infection & Immunity, Bayoumy, Sherif, Verberk, Inge M.W., Vermunt, Lisa, Willemse, Eline, Den Dulk, Ben, Van Der Ploeg, Ans T., Pajkrt, Dasja, Nitz, Elisa, Van Den Hout, Johanna M.P., Van Der Post, Julie, Wolf, Nicole I., Beerepoot, Shanice, Groen, Ewout J.N., Tüngler, Victoria, and Teunissen, Charlotte E.

Published
2024

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

Author

Schoser, Benedikt, van der 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, van den Hout, Johanna M.P., van Doorn, Pieter A., Wenninger, Stephan, van der Ploeg, Ans T., Schoser, Benedikt, van der 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, van den Hout, Johanna M.P., van Doorn, Pieter A., Wenninger, Stephan, and van der Ploeg, Ans T.

Abstract

Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT. Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in-person meeting, three rounds of discussion and voting to provide a consensus recommendation. Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient-by-patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion-associated reactions. Switching of ERT should be discussed on a patient-by-patient shared-decision basis. If there are severe, unmanageable infusion-associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six-monthly European Pompe Consortium muscle function assessments are recommended. Conclusions: The triple-S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six-monthly long-term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT.

Published
2024

39. Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa:new modeling of real-world data from the Pompe Registry

Author

Berger, Kenneth I., Chien, Yin Hsiu, Dubrovsky, Alberto, Kishnani, Priya S., Llerena, Juan C., Neilan, Edward, Roberts, Mark, Sheng, Bun, Batista, Julie L., Periquet, Magali, Wilson, Kathryn M., van der Ploeg, Ans T., Berger, Kenneth I., Chien, Yin Hsiu, Dubrovsky, Alberto, Kishnani, Priya S., Llerena, Juan C., Neilan, Edward, Roberts, Mark, Sheng, Bun, Batista, Julie L., Periquet, Magali, Wilson, Kathryn M., and van der Ploeg, Ans T.

Abstract

Background: Chronic respiratory insufficiency from progressive muscle weakness causes morbidity and mortality in late-onset Pompe disease (LOPD). Previous Pompe Registry (NCT00231400) analyses for ≤ 5 years’ alglucosidase alfa treatment showed a single linear time trend of stable forced vital capacity (FVC) % predicted. Methods: To assess longer term Pompe Registry data, piecewise linear mixed model regression analyses estimated FVC% predicted trajectories in invasive-ventilator-free patients with LOPD aged ≥ 5 years. We estimated annual FVC change 0–6 months, > 6 months–5 years, and > 5–13 years from treatment initiation, adjusting for baseline age, sex, and non-invasive ventilation. Findings: Among 485 patients (4612 FVC measurements; 8.3 years median follow-up), median ages at symptom onset, diagnosis, and alglucosidase alfa initiation were 34.3, 41.1, and 44.9 years, respectively. FVC% increased during the first 6 months’ treatment (slope 1.83%/year; 95% confidence interval: 0.66, 3.01; P = 0.0023), then modestly declined −0.54%/year (−0.79, −0.30; P < 0.0001) during > 6 months–5 years, and −1.00%/year (−1.36, −0.63; P < 0.0001) during > 5–13 years. The latter two periods’ slopes were not significantly different from each other (Pdifference = 0.0654) and were less steep than published natural history slopes (−1% to −4.6%/year). Estimated individual slopes were ≥ 0%/year in 96.1%, 30.3%, and 13.2% of patients during the 0–6 month, > 6 month–5 year, and > 5–13 year periods, respectively. Conclusion: These real-world data indicate an alglucosidase alfa benefit on FVC trajectory that persists at least 13 years compared with published natural history data. Nevertheless, unmet need remains since most individuals demonstrate lung function decline 5 years after initiating treatment. Whether altered FVC trajectory impacts respiratory failure incidence remain

Published
2024

40. Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage

Author

Catalano, Fabio, Vlaar, Eva C., Dammou, Zina, Katsavelis, Drosos, Huizer, Tessa F., Zundo, Giacomo, Hoogeveen-Westerveld, Marianne, Oussoren, Esmeralda, van den Hout, Hannerieke J. M. P., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J. T., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Catalano, Fabio, Vlaar, Eva C., Dammou, Zina, Katsavelis, Drosos, Huizer, Tessa F., Zundo, Giacomo, Hoogeveen-Westerveld, Marianne, Oussoren, Esmeralda, van den Hout, Hannerieke J. M. P., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J. T., van der Ploeg, Ans T., and Pijnappel, W. W. M. Pim

Abstract

Deficiency of iduronate 2-sulfatase (IDS) causes Mucopolysaccharidosis type II (MPS II), a lysosomal storage disorder characterized by systemic accumulation of glycosaminoglycans (GAGs), leading to a devastating cognitive decline and life-threatening respiratory and cardiac complications. We previously found that hematopoietic stem and progenitor cell-mediated lentiviral gene therapy (HSPC-LVGT) employing tagged IDS with insulin-like growth factor 2 (IGF2) or ApoE2, but not receptor-associated protein minimal peptide (RAP12x2), efficiently prevented brain pathology in a murine model of MPS II. In this study, we report on the effects of HSPC-LVGT on peripheral pathology and we analyzed IDS biodistribution. We found that HSPC-LVGT with all vectors completely corrected GAG accumulation and lysosomal pathology in liver, spleen, kidney, tracheal mucosa, and heart valves. Full correction of tunica media of the great heart vessels was achieved only with IDS.IGF2co gene therapy, while the other vectors provided near complete (IDS.ApoE2co) or no (IDSco and IDS.RAP12x2co) correction. In contrast, tracheal, epiphyseal, and articular cartilage remained largely uncorrected by all vectors tested. These efficacies were closely matched by IDS protein levels following HSPC-LVGT. Our results demonstrate the capability of HSPC-LVGT to correct pathology in tissues of high clinical relevance, including those of the heart and respiratory system, while challenges remain for the correction of cartilage pathology.

Published
2024

41. Neurofilament light protein as a biomarker for spinal muscular atrophy:A review and reference ranges

Author

Bayoumy, Sherif, Verberk, Inge M.W., Vermunt, Lisa, Willemse, Eline, Den Dulk, Ben, Van Der Ploeg, Ans T., Pajkrt, Dasja, Nitz, Elisa, Van Den Hout, Johanna M.P., Van Der Post, Julie, Wolf, Nicole I., Beerepoot, Shanice, Groen, Ewout J.N., Tüngler, Victoria, Teunissen, Charlotte E., Bayoumy, Sherif, Verberk, Inge M.W., Vermunt, Lisa, Willemse, Eline, Den Dulk, Ben, Van Der Ploeg, Ans T., Pajkrt, Dasja, Nitz, Elisa, Van Den Hout, Johanna M.P., Van Der Post, Julie, Wolf, Nicole I., Beerepoot, Shanice, Groen, Ewout J.N., Tüngler, Victoria, and Teunissen, Charlotte E.

Abstract

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron (SMN1) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration. However, the absence of monitoring and prognostic blood biomarkers for neurodegeneration in SMA hinders effective disease management. Neurofilament light protein (NfL) is a promising biomarker of neuroaxonal damage in SMA and reflects disease progression in children with SMA undergoing treatment. Recently, the European Medicines Agency issued a letter of support endorsing the potential utilization of NfL as a biomarker of pediatric neurological diseases, including SMA. Within this review, we comprehensively assess the potential applications of NfL as a monitoring biomarker for disease severity and treatment response in pediatric-onset SMA. We provide reference ranges for normal levels of serum based NfL in neurologically healthy children aged 0-18 years. These reference ranges enable accurate interpretation of NfL levels in children and can accelerate the implementation of NfL into clinical practice.

Published
2024

42. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease:an open-label phase I/II study (ATB200-02)

Author

Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, Mozaffar, Tahseen, Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, and Mozaffar, Tahseen

Abstract

Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT-experienced (n = 6) and three ambulatory cohorts, (two enzyme replacement therapy [ERT]-experienced cohorts [2–6 years (n = 11) and ≥ 7 years (n = 6)]), one ERT-naïve cohort (n = 6), received 20 mg/kg intravenous-infused cipa plus 260 mg oral mig biweekly. Change from baseline (CFBL) for multiple efficacy endpoints at 12, 24, 36, and 48 months, pharmacodynamics, pharmacokinetics, safety, and immunogenicity data were assessed. Six-minute walking distance (% predicted) improved at 12, 24, 36, and 48 months: pooled ambulatory ERT-experienced cohorts, mean(± standard deviation [SD]) CFBL: 6.1(± 7.84), n = 16; 5.4(± 10.56), n = 13; 3.4(± 14.66), n = 12; 5.9(± 17.36), n = 9, respectively; ERT-naïve cohort: 10.7(± 3.93), n = 6; 11.0(± 5.06), n = 6; 9.0(± 7.98), n = 5; 11.7(± 7.69), n = 4, respectively. Percent predicted forced vital capacity was generally stable in ERT-experienced cohorts, mean(± SD) CFBL − 1.2(± 5.95), n = 16; 1.0(± 7.96), n = 13; − 0.3(± 6.68), n = 10; 1.0(± 6.42), n = 6, respectively, and improved in the ERT-naïve cohort: 3.2(± 8.42), n = 6; 4.7(± 5.09), n = 6; 6.2(± 3.35), n = 5; 8.3(± 4.50), n = 4, respectively. Over 48 months, CK and Hex4 biomarkers improved in ambulatory cohorts. Overall, cipa + mig was well tolerated with a safety profile like alglucosidase alfa. ATB200-02 results show the potential benefits of cipa + mig as a long-term treatment option for Pompe disease. Trial registration number: NCT02675465 January 26, 2016.

Published
2024

43. The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease

Author

Theunissen, Maudy T.M., van den Elsen, Renee M., House, Tiffany L., Crittenden, Brad, van Doorn, Pieter A., van der Ploeg, Ans T., Kruijshaar, Michelle E., van der Beek, Nadine A.M.E., Theunissen, Maudy T.M., van den Elsen, Renee M., House, Tiffany L., Crittenden, Brad, van Doorn, Pieter A., van der Ploeg, Ans T., Kruijshaar, Michelle E., and van der Beek, Nadine A.M.E.

Abstract

Background: Patients with Pompe disease, a rare metabolic myopathy, were thought to be at increased risk of severe COVID-19 disease during the pandemic. In addition, the lockdown may have affected their regular treatment. Objective: To assess the perceived effect of COVID-19 infection and of the pandemic on the treatment, and physical and mental health of patients with Pompe disease. Methods: Patients with Pompe disease over 16 years of age participated in an international, cross-sectional, online survey (September 20, 2022–November 7, 2022). The questionnaire, available in eight languages, consisted of 89 questions divided into 3 parts: (A) severity of Pompe disease, (B) COVID-19 precautions and infection(s) and (C) effects of the COVID-19 pandemic. Results: Among 342 respondents, originating from 25 different countries, 47.6% experienced one or more COVID-19 infections. While most recovered within 4 weeks (69.7%) and only eight patients needed to be admitted to the hospital, 42.2% of patients experienced an impact of the infection on their overall condition, respiratory status and/or mobility status. More severely affected patients took more stringent control measures. The pandemic additionally caused interruptions in medical care in many patients (56.0%) and 17.2% of patients experienced interruptions of enzyme replacement therapy. The pandemic also affected many patients’ disease severity (27.7%), mental health (55.4%) and feeling of loneliness (43.4%). Conclusion: COVID-19 infection(s) and the pandemic affected the treatment, physical health and mental health of patients with Pompe disease, emphasizing the importance of continued patient centered care during a difficult time such as the COVID-19 pandemic.

Published
2024

44. 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease:a phase III open-label extension study (ATB200-07)

Author

Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans T., Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen, Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans T., Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, and Mozaffar, Tahseen

Abstract

The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa + mig) with alglucosidase alfa + placebo (alg + pbo) in adults with late-onset Pompe disease (LOPD). This ongoing open-label extension (OLE; NCT04138277) evaluates long-term safety and efficacy of cipa + mig. Outcomes include 6-min walk distance (6MWD), forced vital capacity (FVC), creatine kinase (CK) and hexose tetrasaccharide (Hex4) levels, patient-reported outcomes and safety. Data are reported as change from PROPEL baseline to OLE week 52 (104 weeks post-PROPEL baseline). Of 118 patients treated in the OLE, 81 continued cipa + mig treatment from PROPEL (cipa + mig group; 61 enzyme replacement therapy [ERT] experienced prior to PROPEL; 20 ERT naïve) and 37 switched from alg + pbo to cipa + mig (switch group; 29 ERT experienced; 8 ERT naive). Mean (standard deviation [SD]) change in % predicted 6MWD from baseline to week 104 was + 3.1 (8.1) for cipa + mig and − 0.5 (7.8) for the ERT-experienced switch group, and + 8.6 (8.6) for cipa + mig and + 8.9 (11.7) for the ERT-naïve switch group. Mean (SD) change in % predicted FVC was − 0.6 (7.5) for cipa + mig and − 3.8 (6.2) for the ERT-experienced switch group, and − 4.8 (6.5) and − 3.1 (6.7), respectively, in ERT-naïve patients. CK and Hex4 levels improved in both treatment groups by week 104 with cipa + mig treatment. Three patients discontinued the OLE due to infusion-associated reactions. No new safety signals were identified. Cipa + mig treatment up to 104 weeks was associated with overall maintained improvements (6MWD, biomarkers) or stabilization (FVC) from baseline with continued durability, and was well tolerated, supporting long-term benefits for patients with LOPD. Trial registration number: NCT04138277; trial start date: December 18, 2019.

Published
2024

45. Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease

Author

Lika, Aglina, Andrinopoulou, Eleni Rosalina, van der Beek, Nadine A.M.E., Rizopoulos, Dimitris, van der Ploeg, Ans T., Kruijshaar, Michelle E., Lika, Aglina, Andrinopoulou, Eleni Rosalina, van der Beek, Nadine A.M.E., Rizopoulos, Dimitris, van der Ploeg, Ans T., and Kruijshaar, Michelle E.

Abstract

Background and purpose: Pompe disease is a rare, inheritable, progressive metabolic myopathy. This study aimed to estimate the minimal clinically important difference (MCID) for an improvement in forced vital capacity in the upright seated position (FVCup) and the 6-min walk test (6MWT) after a year of treatment with enzyme replacement therapy. Methods: Data were obtained from two prospective follow-up studies. Between-group and within-group MCIDs were estimated using anchor-based methods. Additionally, a distribution-based method was used to generate supportive evidence. As anchors, self-reported change in health and in physical functioning, shortness of breath and a categorization of the Short-Form 36 Physical Component Summary score were used. Anchor appropriateness was assessed using Spearman correlations (absolute values ≥0.29) and a sufficient number of observations in each category. Results: In all, 102 patients had at least one FVCup or 6MWT measurement during enzyme replacement therapy. Based on the anchors assessed as appropriate, the between-group MCID for an improvement in FVCup ranged from 2.47% to 4.83% points. For the 6MWT, it ranged from 0.35% to 7.47% points which is equivalent to a distance of 2.18–46.61 m and 1.97–42.13 m for, respectively, a man and a woman of age 50, height 1.75 m and weight 80 kg. The results of the distribution-based method were within these ranges when applied to change in the outcome values.Conclusion: The MCIDs for FVCup and 6MWT derived in this study can be used to interpret differences between and within groups of patients with Pompe disease in clinical trials and cohort studies.

Published
2024

47. A genetic modifier of symptom onset in Pompe disease

Author

Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., and Pijnappel, W.W.M. Pim

Published
2019
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48. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Author

Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I., Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, and Williams, Monique

Published
2019
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49. microRNAs as biomarkers in Pompe disease

Author

Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, Ww Pim, van der Ploeg, Ans T, and Parenti, Giancarlo

Published
2019
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50. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study

Author

Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, Vissing, John, Young, Peter, Kacena, Katherine, Shafi, Raheel, Thurberg, Beth L., Culm-Merdek, Kerry, and van der Ploeg, Ans T.

Published
2019
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