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5. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

Author

Giugliani, Roberto, Guelbert, Norberto, Hennermann, Julia, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth, Yarramaneni, Abhimanyu, Armstrong, Nicole, Kim, Yong, Kumar, Monica, Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, and Gallagher, Renata

Subjects
Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type A/B, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase, Adult, Humans, Sphingomyelin Phosphodiesterase, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Recombinant Proteins
Abstract

BACKGROUND: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated reductions in sphingomyelin storage, organomegaly, interstitial lung disease and impaired diffusion capacity of the lung (DLCO), during the first year of olipudase alfa treatment. In an ongoing open-label extension of the ASCEND trial, individuals in the placebo group crossed over to olipudase alfa, and those in the olipudase alfa group continued treatment. RESULTS: Thirty-five of 36 participants continued in the extension trial, and 33 completed year 2. Change-from-baseline results are presented as least-square mean percent change ± SEM. Improvements in the cross-over group after 1 year of treatment paralleled those of the olipudase alfa group from the primary analysis, while clinical improvement continued for those receiving olipudase alfa for 2 years. In the cross-over group, percent-predicted DLCO increased by 28.0 ± 6.2%, spleen volume decreased by 36.0 ± 3.0% and liver volume decreased by 30.7 ± 2.5%. For those with 2 years of olipudase alfa treatment, the percent predicted DLCO increased by 28.5 ± 6.2%, spleen volume decreased by 47.0 ± 2.7%, and liver volume decreased by 33.4 ± 2.2%. Lipid profiles and elevated liver transaminase levels improved or normalized by 1 year and remained stable through 2 years of treatment. Overall, 99% of treatment-emergent adverse events were mild or moderate, with one treatment-related serious adverse event (extrasystoles; previously documented cardiomyopathy). No individual discontinued due to an adverse event. CONCLUSION: Treatment with olipudase alfa is well tolerated and reduces manifestations of chronic ASMD with sustained efficacy. Trial registration NCT02004691 registered 9 December 2013, https://clinicaltrials.gov/ct2/show/NCT02004691.

Published
2023

7. Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Author

Mengel, Eugen, Patterson, Marc C, Da Riol, Rosalia M, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Petersen, Nikolaj Havnsøe Torp, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, and Dali, Christine

Subjects
Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Child, Child, Preschool, Disease Progression, Double-Blind Method, Female, Humans, Hydroxylamines, Internationality, Male, Niemann-Pick Disease, Type C, Prospective Studies, Severity of Illness Index, Treatment Outcome, Young Adult, arimoclomol, biomarker, double-blindplacebo-controlled, heat shock protein, Niemann-Pick disease type C, NPC clinical severity scale, Clinical Sciences, Genetics & Heredity
Abstract

Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. We investigated the safety and efficacy of arimoclomol, which amplifies the heat shock response to target NPC protein misfolding and improve lysosomal function, in patients with NPC. In a 12-month, prospective, randomised, double-blind, placebo-controlled, phase 2/3 trial (ClinicalTrials.gov identifier: NCT02612129), patients (2-18 years) were randomised 2:1 to arimoclomol:placebo, stratified by miglustat use. Routine clinical care was maintained. Arimoclomol was administered orally three times daily. The primary endpoint was change in 5-domain NPC Clinical Severity Scale (NPCCSS) score from baseline to 12 months. Fifty patients enrolled; 42 completed. At month 12, the mean progression from baseline in the 5-domain NPCCSS was 0.76 with arimoclomol vs 2.15 with placebo. A statistically significant treatment difference in favour of arimoclomol of -1.40 (95% confidence interval: -2.76, -0.03; P = .046) was observed, corresponding to a 65% reduction in annual disease progression. In the prespecified subgroup of patients receiving miglustat as routine care, arimoclomol resulted in stabilisation of disease severity over 12 months with a treatment difference of -2.06 in favour of arimoclomol (P = .006). Adverse events occurred in 30/34 patients (88.2%) receiving arimoclomol and 12/16 (75.0%) receiving placebo. Fewer patients had serious adverse events with arimoclomol (5/34, 14.7%) vs placebo (5/16, 31.3%). Treatment-related serious adverse events (n = 2) included urticaria and angioedema. Arimoclomol provided a significant and clinically meaningful treatment effect in NPC and was well tolerated.

Published
2021

8. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Author

Wasserstein, Melissa P., Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C., Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B., Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L., Yarramaneni, Abhimanyu, Armstrong, Nicole M., Kim, Yong, and Kumar, Monica

Published
2023
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10. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Author

Geberhiwot, Tarekegn, Wasserstein, Melissa, Wanninayake, Subadra, Bolton, Shaun Christopher, Dardis, Andrea, Lehman, Anna, Lidove, Olivier, Dawson, Charlotte, Giugliani, Roberto, Imrie, Jackie, Hopkin, Justin, Green, James, de Vicente Corbeira, Daniel, Madathil, Shyam, Mengel, Eugen, Ezgü, Fatih, Pettazzoni, Magali, Sjouke, Barbara, Hollak, Carla, Vanier, Marie T., McGovern, Margaret, and Schuchman, Edward

Published
2023
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12. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Author

Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Arash-Kaps, Laila, Barbato, Antonio, Gallagher, Renata C., Giugliani, Roberto, Guelbert, Norberto Bernardo, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Eubekir, Tchan, Michel, Villarrubia, Jesus, Chen, Yixin, Furey, Sandy, Thurberg, Beth L., Zaher, Atef, and Kumar, Monica

Published
2022
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15. 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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17. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, and on behalf of the POM-001/002 Investigators

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Rare Diseases, Liver Disease, Lung, Clinical Research, Digestive Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, alpha-Glucosidases, Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Respiratory, Pulmonary, POM-001/002 Investigators, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was

Published
2017

18. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

Author

Harmatz, Paul R, Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J, Burton, Barbara K, Jameson, Elisabeth, Berger, Kenneth I, Jester, Andrea, Treadwell, Marsha, Sisic, Zlatko, and Decker, Celeste

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, Patient Safety, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Activities of Daily Living, Adolescent, Adult, Biomarkers, Child, Chondroitinsulfatases, Enzyme Replacement Therapy, Exercise, Female, Humans, Keratan Sulfate, Male, Mucopolysaccharidosis IV, Quality of Life, Respiratory Function Tests, Self Report, Treatment Outcome, Walking, Young Adult, mucopolysaccharidosis IV, safety, physical endurance, GALNS protein, human [supplementary concept], enzyme replacement therapy, mobility limitation, GALNS protein, human [supplementary concept], Genetics, Clinical sciences
Abstract

Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed. Fifteen patients received elosulfase alfa, three patients discontinued ERT due to adverse events (two were grade 3 drug-related adverse events, the other was not drug-related), and two patients missed >20% of planned infusions; 10 completed treatment through 48 weeks and received ≥80% of planned infusions (Modified Per Protocol [MPP] population). The study population had more advanced disease than that enrolled in other trials. From baseline to week 48, MPP data showed biochemical efficacy (urine KS decreased 52.4%). The remaining efficacy results were highly variable due to challenges in test execution because of severe skeletal and joint abnormalities, small sample sizes, and clinical heterogeneity among patients. Eight patients showed improvements in one or more outcome measures; several patients indicated improvements not captured by the study assessments (e.g., increased energy, functional ability). The nature of adverse events was similar to other elosulfase alfa studies. This study illustrates the considerable challenges in objectively measuring impact of ERT in very disabled Morquio A patients and highlights the need to examine results on an individual basis. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Published
2017

19. 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

20. 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, and van den Hout, Johanna M. P.

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. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)

Author

Hastings, Caroline A., primary, Goker-Alpan, Ozlem, additional, Pena, Loren, additional, Bayarri, Jordi Gascon, additional, Martin-Hernandez, Elena, additional, Sharma, Reena, additional, Chacham, Orna Staretz, additional, Spiegel, Ronen, additional, Mengel, Eugen, additional, Walterfang, Mark, additional, Peters, Heidi, additional, Fung, Victor S., additional, Kiec-Wilk, Beata, additional, Smith, Nicholas, additional, Giugliani, Roberto, additional, Guelbert, Norberto, additional, Ezgu, Fatih, additional, Ucar, Sema Kalkan, additional, Murray, Bryan J., additional, Brecht, Andreas F., additional, and Mejia, Joseph, additional

Published
2024
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24. Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials

Author

Lachmann, Robin, primary, Ganesh, Jaya, additional, Giugliani, Roberto, additional, Guffon, Nathalie, additional, Mengel, Eugen, additional, Scarpa, Maurizio, additional, Wasserstein, Melissa, additional, Aguiar, Mario, additional, Armstrong, Nicole, additional, Thurberg, Beth L., additional, and Kumar, Monica, additional

Published
2024
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25. Results of a phase III, randomized, placebo-controlled crossover trial with -acetyl-L-leucine for Niemann-Pick disease type C

Author

Fields, Taylor, primary, Bremova-Ertl, Tatiana, additional, Ramaswami, Uma, additional, Brands, Marion, additional, Gautschi, Matthias, additional, Gissen, Paul, additional, Hahn, Andreas, additional, Jones, Simon, additional, Kolnikova, Miriam, additional, Arash-Karps, Laila, additional, Mengel, Eugen, additional, Park, Julien, additional, Reichmannová, Stella, additional, Schneider, Susanne, additional, Sivananthan, Siyamini, additional, Walterfang, Mark, additional, Wibawa, Pierre, additional, Strupp, Michael, additional, and Martakis, Kyriakos, additional

Published
2024
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26. NEO1/NEO-EXT studies: Long-term muscle quantitative magnetic resonance imaging and functional efficacy in adults with late-onset Pompe disease (LOPD) on avalglucosidase alfa treatment

Author

Byrne, Barry, primary, Carlier, Pierre G., additional, Vissing, John, additional, Dimachkie, Mazen M., additional, Barohn, Richard, additional, Kishnani, Priya S., additional, Ladha, Shafeeq, additional, Mengel, Eugen, additional, Sacconi, Sabrina, additional, Trivedi, Jaya, additional, Young, Peter, additional, Haack, Kristina An, additional, Armstrong, Nicole, additional, Miossec, Patrick, additional, Thibault, Nathan, additional, Sparks, Susan, additional, Schoser, Benedikt, additional, and Diaz-Manera, Jordi, additional

Published
2024
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27. Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

Author

Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, and Dali, Christine í

Published
2021
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33. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

Author

Hendriksz, Christian J, Burton, Barbara, Fleming, Thomas R, Harmatz, Paul, Hughes, Derralynn, Jones, Simon A, Lin, Shuan‐Pei, Mengel, Eugen, Scarpa, Maurizio, Valayannopoulos, Vassili, Giugliani, Roberto, Investigators, STRIVE, Slasor, Peter, Lounsbury, Debra, and Dummer, Wolfgang

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, Prevention, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Adult, Child, Child, Preschool, Chondroitinsulfatases, Double-Blind Method, Enzyme Replacement Therapy, Female, Humans, Keratan Sulfate, Male, Middle Aged, Motor Activity, Mucopolysaccharidosis IV, Rare Diseases, Treatment Outcome, Walking, Young Adult, STRIVE Investigators, Genetics & Heredity, Genetics, Clinical sciences
Abstract

ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:1) to receive elosulfase alfa 2.0 mg/kg/every other week (qow), elosulfase alfa 2.0 mg/kg/week (weekly) or placebo for 24 weeks in this phase 3, double-blind, randomised study. The primary efficacy measure was 6-min walk test (6MWT) distance. Secondary efficacy measures were 3-min stair climb test (3MSCT) followed by change in urine keratan sulfate (KS). Various exploratory measures included respiratory function tests. Patient safety was also evaluated.ResultsAt week 24, the estimated mean effect on the 6MWT versus placebo was 22.5 m (95 % CI 4.0, 40.9; P = 0.017) for weekly and 0.5 m (95 % CI -17.8, 18.9; P = 0.954) for qow. The estimated mean effect on 3MSCT was 1.1 stairs/min (95 % CI -2.1, 4.4; P = 0.494) for weekly and -0.5 stairs/min (95 % CI -3.7, 2.8; P = 0.778) for qow. Normalised urine KS was reduced at 24 weeks in both regimens. In the weekly dose group, 22.4 % of patients had adverse events leading to an infusion interruption/discontinuation requiring medical intervention (only 1.3 % of all infusions in this group) over 6 months. No adverse events led to permanent treatment discontinuation.ConclusionsElosulfase alfa improved endurance as measured by the 6MWT in the weekly but not qow dose group, did not improve endurance on the 3MSCT, reduced urine KS, and had an acceptable safety profile.

Published
2014

34. Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

Author

Kampmann, Christoph, Wiethoff, Christiane M., Huth, Ralf G., Staatz, Gundula, Mengel, Eugen, Beck, Michael, Gehring, Stefan, Mewes, Torsten, Abu-Tair, Tariq, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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35. P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY

Author

Villarrubia, Jesus, primary, Ganesh, Jaya, additional, Giugliani, Roberto, additional, Guffon, Nathalie, additional, Mengel, Eugen, additional, Scarpa, Maurizio, additional, Wasserstein, Melissa, additional, Armstrong, Nicole, additional, Maja, Gasparic, additional, Kim, Yong, additional, Wong, Holly, additional, and Yarramaneni, Abhimanyu, additional

Published
2023
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36. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Author

Mehta, Atul, Belmatoug, Nadia, Bembi, Bruno, Deegan, Patrick, Elstein, Deborah, Göker-Alpan, Özlem, Lukina, Elena, Mengel, Eugen, Nakamura, Kimitoshi, Pastores, Gregory M., Pérez-López, Jordi, Schwartz, Ida, Serratrice, Christine, Szer, Jeffrey, Zimran, Ari, Di Rocco, Maja, Panahloo, Zoya, Kuter, David J., and Hughes, Derralynn

Published
2017
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39. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

Author

Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, and í Dali, Christine

Published
2020
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41. Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C

Author

Fields, Taylor, Bremova-Ertl, Tatiana, Ramaswami, Uma, Brands, Marion, Gautschi, Matthias, Gissen, Paul, Hahn, Andreas, Jones, Simon, Kolnikova, Miriam, Arash-Karps, Laila, Mengel, Eugen, Park, Julien, Reichmannová, Stella, Schneider, Susanne, Sivananthan, Siyamini, Walterfang, Mark, Wibawa, Pierre, Strupp, Michael, and Martakis, Kyriakos

Published
2024
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42. Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany

Author

Hahn, Andreas, Praetorius, Susanne, Karabul, Nesrin, Dießel, Johanna, Schmidt, Dorle, Motz, Reinald, Haase, Claudia, Baethmann, Martina, Hennermann, Julia B., Smitka, Martin, Santer, René, Muschol, Nicole, Meyer, Ann, Marquardt, Thorsten, Huemer, Martina, Thiels, Charlotte, Rohrbach, Marianne, Seyfullah, Gökce, Mengel, Eugen, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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43. Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Author

Karabul, Nesrin, Skudlarek, Anika, Berndt, Janine, Kornblum, Cornelia, Kley, Rudolf A., Wenninger, Stephan, Tiling, Nikolaus, Mengel, Eugen, Plöckinger, Ursula, Vorgerd, Matthias, Deschauer, Marcus, Schoser, Benedikt, Hanisch, Frank, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2014
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44. Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial

Author

Giugliani, Roberto, primary, Diaz, George, additional, Guffon, Nathalie, additional, Jones, Simon A., additional, McGovern, Margaret, additional, Mengel, Eugen, additional, Scarpa, Maurizio, additional, Witters, Peter, additional, Yarramaneni, Abhimanyu, additional, Armstrong, Nicole, additional, Ortemann-Renon, Catherine, additional, Kim, Yong, additional, and Kumar, Monica, additional

Published
2023
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45. Natural history of acid sphingomyelinase deficiency (ASMD) among European patients during childhood and adolescence: A retrospective observational study

Author

Mengel, Eugen, primary, Scarpa, Maurizio, additional, Guffon, Nathalie, additional, Jones, Simon A., additional, Goriya, Vishal, additional, Msihid, Jerome, additional, Dyevre, Valérie, additional, Rodriguez, Carly, additional, Gasparic, Maja, additional, Nalysnyk, Lubomyra, additional, Laredo, Fernando, additional, and Pulikottil-Jacob, Ruth, additional

Published
2023
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48. Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic

Author

Niederau, Claus, additional, Regenbogen, Claudia, additional, Fruehauf, Hans-Martin, additional, Merkel, Martin, additional, Ziagaki, Athanasia, additional, Mengel, Eugen, additional, Baerwald, Christoph, additional, Muschol, Nicole, additional, Staufner, Christian, additional, Lampe, Christina, additional, Gillessen, Anton, additional, Koehler, Jan Philipp, additional, and vom Dahl, Stephan, additional

Published
2023
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50. Additional file 1 of Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Author

Diaz, George A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Li, Jing, Armstrong, Nicole M., Kim, Yong, Ortemann-Renon, Catherine, and Kumar, Monica

Abstract

Additional file 1: Table S1. Demographics and baseline characteristics. Table S2. Spleen and Liver Volumes, Percent Predicted DLCO, and height Z-scores at Baseline and 24 Months for by Age Group. Fig. S1. Results for volumetric lung function tests over time. Mean % predicted forced vital capacity (FVC) and total lung capacity (TLC) for overall pediatric population. Fig. S2. Plasma levels of liver enzymes and total bilirubin during treatment with olipudase alfa. Fig. S3. Plasma lipid concentrations during treatment with olipudase alfa. Fig. S4. Pre-infusion Plasma Levels Lyso-Sphingomyelin (A), and Chitotriosidase Activity (B) During Treatment with Olipudase Alfa.

Published
2023
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