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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
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- Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan E. Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D. M. Peña, Si Houn Hahn, Judith Johnson, Pranoot X. Tanpaiboon, Nancy D. Leslie, David Kronn, Richard E. Hillman, Raymond Y. Wang
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- Journal:
- Cardiology in the Young / Volume 32 / Issue 3 / March 2022
- Published online by Cambridge University Press:
- 23 August 2021, pp. 364-373
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Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpublished cardiac findings, concomitant medications, and cardiac efficacy and safety outcomes from the ADVANCE study; trajectories of patients with abnormal left ventricular mass z score at enrolment; and post hoc analyses of on-treatment left ventricular mass and systolic blood pressure z scores by disease phenotype, GAA genotype, and “fraction of life” (defined as the fraction of life on pre-study 160 L production-scale alglucosidase alfa). ADVANCE evaluated 52 weeks’ treatment with 4000 L production-scale alglucosidase alfa in ≥1-year-old United States of America patients with Pompe disease previously receiving 160 L production-scale alglucosidase alfa. M-mode echocardiography and 12-lead electrocardiography were performed at enrolment and Week 52. Sixty-seven patients had complete left ventricular mass z scores, decreasing at Week 52 (infantile-onset patients, change −0.8 ± 1.83; 95% confidence interval −1.3 to −0.2; all patients, change −0.5 ± 1.71; 95% confidence interval −1.0 to −0.1). Patients with “fraction of life” <0.79 had left ventricular mass z score decreasing (enrolment: +0.1 ± 3.0; Week 52: −1.1 ± 2.0); those with “fraction of life” ≥0.79 remained stable (enrolment: −0.9 ± 1.5; Week 52: −0.9 ± 1.4). Systolic blood pressure z scores were stable from enrolment to Week 52, and no cohort developed systemic hypertension. Eight patients had Wolff–Parkinson–White syndrome. Cardiac hypertrophy and dysrhythmia in ADVANCE patients at or before enrolment were typical of Pompe disease. Four-thousand L alglucosidase alfa therapy maintained fractional shortening, left ventricular posterior and septal end-diastolic thicknesses, and improved left ventricular mass z score.
Trial registry: ClinicalTrials.gov Identifier: NCT01526785 https://clinicaltrials.gov/ct2/show/NCT01526785.
Social Media Statement: Post hoc analyses of the ADVANCE study cohort of 113 children support ongoing cardiac monitoring and concomitant management of children with Pompe disease on long-term alglucosidase alfa to functionally improve cardiomyopathy and/or dysrhythmia.
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- By Rose Teteki Abbey, K. C. Abraham, David Tuesday Adamo, LeRoy H. Aden, Efrain Agosto, Victor Aguilan, Gillian T. W. Ahlgren, Charanjit Kaur AjitSingh, Dorothy B E A Akoto, Giuseppe Alberigo, Daniel E. Albrecht, Ruth Albrecht, Daniel O. Aleshire, Urs Altermatt, Anand Amaladass, Michael Amaladoss, James N. Amanze, Lesley G. Anderson, Thomas C. Anderson, Victor Anderson, Hope S. Antone, María Pilar Aquino, Paula Arai, Victorio Araya Guillén, S. Wesley Ariarajah, Ellen T. Armour, Brett Gregory Armstrong, Atsuhiro Asano, Naim Stifan Ateek, Mahmoud Ayoub, John Alembillah Azumah, Mercedes L. García Bachmann, Irena Backus, J. Wayne Baker, Mieke Bal, Lewis V. Baldwin, William Barbieri, António Barbosa da Silva, David Basinger, Bolaji Olukemi Bateye, Oswald Bayer, Daniel H. Bays, Rosalie Beck, Nancy Elizabeth Bedford, Guy-Thomas Bedouelle, Chorbishop Seely Beggiani, Wolfgang Behringer, Christopher M. Bellitto, Byard Bennett, Harold V. Bennett, Teresa Berger, Miguel A. Bernad, Henley Bernard, Alan E. Bernstein, Jon L. Berquist, Johannes Beutler, Ana María Bidegain, Matthew P. Binkewicz, Jennifer Bird, Joseph Blenkinsopp, Dmytro Bondarenko, Paulo Bonfatti, Riet en Pim Bons-Storm, Jessica A. Boon, Marcus J. Borg, Mark Bosco, Peter C. Bouteneff, François Bovon, William D. Bowman, Paul S. Boyer, David Brakke, Richard E. Brantley, Marcus Braybrooke, Ian Breward, Ênio José da Costa Brito, Jewel Spears Brooker, Johannes Brosseder, Nicholas Canfield Read Brown, Robert F. Brown, Pamela K. Brubaker, Walter Brueggemann, Bishop Colin O. Buchanan, Stanley M. Burgess, Amy Nelson Burnett, J. Patout Burns, David B. Burrell, David Buttrick, James P. Byrd, Lavinia Byrne, Gerado Caetano, Marcos Caldas, Alkiviadis Calivas, William J. Callahan, Salvatore Calomino, Euan K. Cameron, William S. Campbell, Marcelo Ayres Camurça, Daniel F. Caner, Paul E. Capetz, Carlos F. Cardoza-Orlandi, Patrick W. Carey, Barbara Carvill, Hal Cauthron, Subhadra Mitra Channa, Mark D. 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Yee, Viktor Yelensky, Yeo Khiok-Khng, Gustav K. K. Yeung, Angela Yiu, Amos Yong, Yong Ting Jin, You Bin, Youhanna Nessim Youssef, Eliana Yunes, Robert Michael Zaller, Valarie H. Ziegler, Barbara Brown Zikmund, Joyce Ann Zimmerman, Aurora Zlotnik, Zhuo Xinping
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- The Cambridge Dictionary of Christianity
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- 05 August 2012
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- By Jennifer Alvarez, Ananda B. Amstadter, Metin Başoğlu, David M. Benedek, Charles C. Benight, George A. Bonanno, Evelyn J. Bromet, Richard A. Bryant, Barbara Lopes Cardozo, M. L. Somchai Chakkraband, Claude Chemtob, Roman Cieslak, Lauren M. Conoscenti, Joan M. Cook, Judith Cukor, Carla Kmett Danielson, JoAnn Difede, Charles DiMaggio, Anja J.E. Dirkzwager, Cristiane S. Duarte, Jon D. Elhai, Diane L. Elmore, Yael L.E. Errera, Julian D. Ford, Carol S. Fullerton, Sandro Galea, Freya Goodhew, Neil Greenberg, Lindsay Greene, Linda Grievink, Michael J. Gruber, Sumati Gupta, Johan M. Havenaar, Alesia O. Hawkins, Clare Henn-Haase, Kimberly Eaton Hoagwood, Christina W. Hoven, Sabra S. Inslicht, Krzysztof Kaniasty, Ronald C. Kessler, Rachel Kimerling, Richard V. King, Rolf J. Kleber, Jessica Mass Levitt, Brett T. Litz, Maria Livanou, Katelyn P. Mack, Paula Madrid, Shira Maguen, Paul Maguire, Donald J. Mandell, Charles R. Marmar, Andrea R. Maxwell, Shannon E. McCaslin, Alexander C. McFarlane, Thomas J. Metzler, Summer Nelson, Yuval Neria, Elana Newman, Thomas C. Neylan, Fran H. Norris, Carol S. North, Lawrence A. Palinkas, Benjaporn Panyayong, Maria Petukhova, Betty Pfefferbaum, Marleen Radigan, Beverley Raphael, James Rodriguez, G. James Rubin, Kenneth J. Ruggiero, Ebru Şalcıoğlu, Nancy A. Sampson, Arieh Y. Shalev, Bruce Shapiro, Laura M. Stough, Prawate Tantipiwatanaskul, Warunee Thienkrua, Phebe Tucker, J. Blake Turner, Robert J. Ursano, Bellis van den Berg, Peter G. van der Velden, Frits van Griensven, Miranda Van Hooff, Edward Waldrep, Philip S. Wang, Simon Wessely, Leslie H. Wind, C. Joris Yzermans, Heidi M. Zinzow
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- Mental Health and Disasters
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