Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyResearch in context

Autor: Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, Oliver Schwartz, Günther Bernert, Maja von der Hagen, Ralf A. Husain, Klaus Goldhahn, Janbernd Kirschner, Astrid Pechmann, Marina Flotats-Bastardas, Gudrun Schreiber, Ulrike Schara, Barbara Plecko, Regina Trollmann, Veronka Horber, Ekkehard Wilichowski, Matthias Baumann, Andrea Klein, Astrid Eisenkölbl, Cornelia Köhler, Georg M. Stettner, Sebahattin Cirak, Oswald Hasselmann, Angela M. Kaindl, Sven F. Garbade, Jessika Johannsen, Andreas Ziegler, Petra Baum, Manuela Baumgartner, Astrid Bertsche, Markus Blankenburg, Jonas Denecke, Marcus Deschauer, Matthias Eckenweiler, Tobias Geis, Martin Groß, René Günther, Tim Hagenacker, Eckard Hamelmann, Christoph Kamm, Birgit Kauffmann, Jan Christoph Koch, Wolfgang Löscher, Albert Ludolph, Pascal Martin, Alexander Mensch, Gerd Meyer zu Hörste, Christoph Neuwirth, Susanne Petri, Manuel Pühringer, Imke Rathmann, Dorothee Schäfer, Mareike Schimmel, Bertold Schrank, Olivia Schreiber-Katz, Anette Schwerin-Nagel, Martin Smitka, Meike Steinbach, Elisabeth Steiner, Johannes Stoffels, Manuela Theophil, Raffi Topakian, Matthias Türk, Matthias Vorgerd, Maggie C. Walter, Markus Weiler, Gert Wiegand, Gilbert Wunderlich, Claudia Diana Wurster, Daniel Zeller, Moritz Metelmann, Fiona Zeiner, Veronika Pilshofer, Mika Rappold, Josefine Pauschek, Christof Reihle, Annette Karolin Homma, Paul Lingor, Bettina Henzi, Tabea Reinhardt, Dorothea Holzwarth, Wolfgang Wittmann, Stefan Kappel, Maren Freigang, Benjamin Stolte, Kyriakos Martakis, Georg Classen, Doris Roland-Schäfer, Daniela Steuernagel, Hans Hartmann, Sophie Fischer, Marieke Wermuth, Mohamad Tareq Muhandes, Anna Hotter, Zeljko Uzelac, Steffen Naegel, Sarah Wiethoff, Nathalie Braun, Bogdan Bjelica, Heike Kölbel, Daniela Angelova-Toshkina, Bernd Wilken, Alma Osmanovic, Barbara Fiedler, Maike Tomforde, Thomas Voelkl, Arpad von Moers, Petra Müller, Bettina Behring, Anne Güttsches, Peter Reilich, Wolfgang Wick, Corinna Stoltenburg, Simon Witzel, Julia Bellut, Georg Friedrich Hoffmann, Kathrin Mörtlbauer, Alexandra Ille, Michael Schroth, Joenna Driemeyer, Luisa Semmler, Cornelia Müller, Katharina Dörnbrack, Michael Zemlin, Stephanie Geitmann, Hanna Sophie Lapp, Svenja Brakemeier, Tascha Gehrke, Klearchos Ntemiris, Nadja Kaiser, Sabine Borowski, Barbara Ramadan, Ulf Hustedt, Tobias Baum, Ilka Schneider, Esra Akova-Oztürk, Katharina Vill, Zylfie Dibrani, Camilla Wohnrade, Adela Della-Marina, Lisa Jung, Timo Deba, Joachim Zobel, Jens Schallner, Christina Kraut, Peter Vollmann, Stephanie Schüssler, Melanie Roeder, Miriam Hiebeler, Nicole Berberich, Joanna Schneider, Brigitte Brauner, Stefan Kölker, Elke Pernegger, Magdalena Gosk-Tomek, Sarah Braun, Deike Weiss, Gerrit Machetanz, Thorsten Langer, Christina Saier, Sandra Baumann, Sabine Hettrich, Gabriel Dworschak, Katharina Müller-Kaempffer, Isabelle Dittes, Andreas Thimm, Lisa Quinten, Kristina Albers, Andrea Bevot, Christa Bretschneider, Johannes Dorst, Thomas Kendzierski, Iris Hannibal, Jasmin Bischofberger, Tilman Riesmeier, Andrea Gangfuß, Eva Johann to Settel, Michael Grässl, Susan Fiebig, Carmen Hollerauer, Lea Seeber, Ina Krahwinkler, Irene Lange, Federica Montagnese, Marcel Mann-Richter, Alexandra Wagner, Christine Leypold, Afshin Saffari, Elmecker Anna, Anna Wiesenhofer, Eva-Maria Wendel, Paula-Sophie Steffens, Sabine Wider, Adrian Tassoni, Andrea Dall, Franziska Busch, Daniela Zeisler, Maria Wessel, Jaqueline Lipka, Andrea Hackemer, Loreen Plugge, Eva Jansen, Erdmute Roth, Joachim Schuster, Anna Koelsch, Birgit Warken-Madelung, Michaela Schwippert, Britta Holtkamp, Katja Köbbing, Sander Claeys, Sandy Foerster, Simone Thiele, Heidi Rochau-Trumpp, Annette George, Moritz Niesert, Tanja Neimair, Katia Vettori, Julia Haverkamp, Jila Taherpour, Juliane Hug, Franziska Wenzel, Christina Bant, Ute Baur, Kathrin Bühner, Melina Schlag, Lena Ruß, Hanna Küpper, Anja Müller, Kurt Wollinsky, Therese Well, Antonia Leinert, Barbara Andres, Heymut Omran, Nicole Claus, Anna Hagenmeyer, Marion Schnurr, Vladimir Dukic, Albert Christian Ludolph, Sabine Specht, Verena Angermair, Anna Hüpper, Daniela Banholzer, Sabine Stein, Tim Kampowski, Marion Richmann, Sylke Nicolai, Omar Atta, Birgit Meßmer, Heike de Vries, Elisabeth Rotenfusser, Alma Oscmanovic, Isabelle Renger, Hélène Guillemot, Ilka Lehnert, Mike Grünwedel, Laura Grimm, Guido Stocker, Annegret Hoevel, Theresa Stadler, Michal Fischer, Sibylle Vogt, Axel Gebert, Susanne Goldbach, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Kristina Probst-Schendzielorz, Annina Lang, Maren Nitzsche, Julie Hammer, Katharina Müller-Kaempfer, Corinna Wirner-Piotrowski, Lieske van der Stam, Anke Bongartz, Cornelia Enzmann, Joël Fluss, Elea Galiart, David Jacquier, Dominique Baumann Metzler, Anne Tscherter

Publikováno v: The Lancet Regional Health. Europe, Vol 47, Iss , Pp 101092- (2024)

Summary: Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide families with evidence-based advice an

Externí odkaz: https://doaj.org/article/d70df10bcbf64e44ab80eb2ebad4ea6f

Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy

Autor: Patricia Hafner, Simone Schmidt, Sabine Schädelin, Pascal Rippert, Dalil Hamroun, Solenn Fabien, Bettina Henzi, Niveditha Putananickal, Daniela Rubino-Nacht, Carole Vuillerot, Dirk Fischer, Stéphanie Fontaine-Carbonnel, Camille De Montferrand, Sylvie Ragot-Mandry, Stéphane Chabrier, Manuella Fournier Mehouas, Hélène Rauscent, Claude Cances, François Rivier, Jon Andoni Urtizberea, Sylviane Peudenier, Sylvain Brochard, Emmanuelle Lagrue

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩
European Journal of Paediatric Neurology, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩

International audience; The Motor Function Measure is a standardized scoring system to evaluate motor function and monitor disease progression in neuromuscular diseases such as Duchenne muscular dystrophy. There are no available reference percentile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c42e636720a9cf5754eefad58995e25
https://hal.archives-ouvertes.fr/hal-03494418

Chest compressions before defibrillation for out-of-hospital cardiac arrest: a meta-analysis of randomized controlled clinical trials

Autor: Daniel Jost, Comilla Sasson, Bettina Henzi, Pascal Meier, Paul Baker, Ian Jacobs, Guido Knapp

Publikováno v: BMC Medicine
BMC Medicine, Vol 8, Iss 1, p 52 (2010)

Background Current 2005 guidelines for advanced cardiac life support strongly recommend immediate defibrillation for out-of-hospital cardiac arrest. However, findings from experimental and clinical studies have indicated a potential advantage of pret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443a72302b000770c4f581fdeb45e037
https://pubmed.ncbi.nlm.nih.gov/20828395

Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry.

Autor: Steiner, Leonie¹ (AUTHOR) leonie.steiner@insel.ch, Tscherter, Anne² (AUTHOR), Henzi, Bettina¹ (AUTHOR), Branca, Mattia³ (AUTHOR), Carda, Stefano⁴ (AUTHOR), Enzmann, Cornelia⁵ (AUTHOR), Fluss, Joël⁶ (AUTHOR), Jacquier, David⁷ (AUTHOR), Neuwirth, Christoph⁸ (AUTHOR), Ripellino, Paolo^9,10 (AUTHOR), Scheidegger, Olivier¹¹ (AUTHOR), Schlaeger, Regina¹² (AUTHOR), Schreiner, Bettina¹³ (AUTHOR), Stettner, Georg M.¹⁴ (AUTHOR), Klein, Andrea¹ (AUTHOR)

Publikováno v: Journal of Clinical Medicine. May2024, Vol. 13 Issue 10, p2798. 10p.

Stable-Isotope Dilution GC–MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, l-Citrulline, or Their Combination

Autor: Baskal, Svetlana¹ (AUTHOR) baskal.svetlana@mh-hannover.de, Bollenbach, Alexander¹ (AUTHOR) bollenbach.alex@gmail.com, Henzi, Bettina² (AUTHOR) bettina.henzi@ukbb.ch, Hafner, Patricia² (AUTHOR) patricia.hafner@ukbb.ch, Fischer, Dirk² (AUTHOR) dirk.fischer@ukbb.ch, Tsikas, Dimitrios¹ (AUTHOR) tsikas.dimitros@mh-hannover.de

Publikováno v: Molecules. Jun2022, Vol. 27 Issue 12, p3850-N.PAG. 15p.