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23 results on '"Baumgartner Manuela"'

1. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

Author

Vill, Katharina, Tacke, Moritz, König, Anna, Baumann, Matthias, Baumgartner, Manuela, Steinbach, Meike, Bernert, Guenther, Blaschek, Astrid, Deschauer, Marcus, Flotats-Bastardas, Marina, Friese, Johannes, Goldbach, Susanne, Gross, Martin, Günther, René, Hahn, Andreas, Hagenacker, Tim, Hauser, Erwin, Horber, Veronka, Illsinger, Sabine, Johannsen, Jessika, Kamm, Christoph, Koch, Jan C., Koelbel, Heike, Koehler, Cornelia, Kolzter, Kirsten, Lochmüller, Hanns, Ludolph, Albert, Mensch, Alexander, Meyer zu Hoerste, Gerd, Mueller, Monika, Mueller-Felber, Wolfgang, Neuwirth, Christoph, Petri, Susanne, Probst-Schendzielorz, Kristina, Pühringer, Manuel, Steinbach, Robert, Schara-Schmidt, Ulrike, Schimmel, Mareike, Schrank, Bertold, Schwartz, Oliver, Schlachter, Kurt, Schwerin-Nagel, Annette, Schreiber, Gudrun, Smitka, Martin, Topakian, Raffi, Trollmann, Regina, Tuerk, Matthias, Theophil, Manuela, Rauscher, Christian, Vorgerd, Mathias, Walter, Maggie C., Weiler, Markus, Weiss, Claudia, Wilichowski, Ekkehard, Wurster, Claudia D., Wunderlich, Gilbert, Zeller, Daniel, Ziegler, Andreas, Kirschner, Janbernd, and Pechmann, Astrid

Published
2024
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2. 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 study

Author

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

Published
2024
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3. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

Author

Krenn, Martin, Sener, Merve, Rath, Jakob, Zulehner, Gudrun, Keritam, Omar, Wagner, Matias, Laccone, Franco, Iglseder, Stephan, Marte, Sonja, Baumgartner, Manuela, Eisenkölbl, Astrid, Liechtenstein, Christian, Rudnik, Sabine, Quasthoff, Stefan, Grinzinger, Susanne, Spenger, Johannes, Wortmann, Saskia B., Löscher, Wolfgang N., Zimprich, Fritz, Kellersmann, Anna, Rappold, Mika, Bernert, Günther, Freilinger, Michael, and Cetin, Hakan

Published
2023
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4. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C., Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Baumgartner, Manuela, Cordts, Isabell, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Günther, René, Hahn, Andreas, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jahnel, Jörg, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schwerin-Nagel, Annette, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Trollmann, Regina, Weiler, Markus, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Ziegler, Andreas, Lochmüller, Hanns, and Kirschner, Janbernd

Published
2022
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6. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Author

Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A., Baumann, Matthias, Köhler, Cornelia, Trollmann, Regina, Schwerin-Nagel, Annette, Eisenkölbl, Astrid, Schimmel, Mareike, Fleger, Martin, Kauffmann, Birgit, Wiegand, Gert, Baumgartner, Manuela, Rauscher, Christian, Cirak, Sebahattin, Gläser, Dieter, Bernert, Günther, Hagenacker, Tim, Goldbach, Susanne, Probst-Schendzielorz, Kristina, Lochmüller, Hanns, Müller-Felber, Wolfgang, Schara-Schmidt, Ulrike, Walter, Maggie C., Kirschner, Janbernd, and Pechmann, Astrid

Abstract

(Abstracted from JAMA Pediatr2024;178(6):540–547Spinal muscular atrophy (SMA) is a genetic disorder characterized by progressive muscle weakness and atrophy, with the most severe cases leading to ventilator dependency or death within 2 years. Three new therapies have significantly improved outcomes, especially with early treatment.

Published
2024
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8. Improvements in Walking Distance during Nusinersen Treatment : A Prospective 3-year SMArtCARE Registry Study

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C., Steinbach, Meike, Blaschek, Astrid, Baumann, Matthias, Baumgartner, Manuela, Becker, Benedikt, Flotats-Bastardas, Marina, Friese, Johannes, Günther, Rene, Hahn, Andreas, Küpper, Hanna, Johannsen, Jessika, Kamm, Christoph, Koch, Jan Christoph, Köhler, Cornelia, Kölbel, Heike, Kolzter, Kirsten, Von Moers, Arpad, Naegel, Steffen, Neuwirth, Christoph, Petri, Susanne, Rödiger, Annekathrin, Schimmel, Mareike, Schrank, Bertold, Schreiber, Gudrun, Smitka, Martin, Stadler, Christian, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Türk, Matthias, Weiler, Markus, Stoltenburg, Corinna, Willichowsky, Ekkehard, Zeller, Daniel, Ziegler, Andreas, Lochmüller, Hanns, and Kirschner, Janbernd

Subjects
Neurology, Medizin, Neurology (clinical), ddc:610
Abstract

Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months. Methods: SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function. Results: Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients. Conclusion: Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.

Published
2023

10. The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

Author

Krenn, Martin, primary, Sener, Merve, additional, Rath, Jakob, additional, Zulehner, Gudrun, additional, Keritam, Omar, additional, Wagner, Matias, additional, Laccone, Franco, additional, Iglseder, Stephan, additional, Marte, Sonja, additional, Baumgartner, Manuela, additional, Eisenkölbl, Astrid, additional, Liechtenstein, Christian, additional, Rudnik, Sabine, additional, Quasthoff, Stefan, additional, Grinzinger, Susanne, additional, Spenger, Johannes, additional, Wortmann, Saskia B., additional, Löscher, Wolfgang N., additional, Zimprich, Fritz, additional, Kellersmann, Anna, additional, Rappold, Mika, additional, Bernert, Günther, additional, Freilinger, Michael, additional, and Cetin, Hakan, additional

Published
2022
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11. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Author

Schorling, David C., Kölbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd, Schara‐Schmidt, Ulrike, Lochmüller, Hanns, Roos, Andreas, Abele, Thea Beatrice, Andres, Barbara, Angelova‐Toshkina, Daniela, Baum, Petra, Baum, Tobias, Baumann, Matthias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blankenburg, Markus, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, de Vries, Heike, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Flotats‐Bastardas, Marina, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Gebert, Axel, Geitmann, Stephanie, Goldhahn, Klaus, Grässl, Michael, Gröning, Kristina, Grosskreutz, Julian, Gruber‐Sedlmayr, Ursula, Guillemot, Helene, Günther, René, von der Hagen, Maja, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hiebeler, Miriam, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holtkamp, Britta, Holzwarth, Dorothea, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jansen, Eva, Johannsen, Jessika, Kaindl, Angela, Kaiser, Nadja, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Langer, Thorsten, Lehnert, Ilka, Lingor, Paul, Löscher, Wolfgang N., LoudoviciüKrug, Dana, Martakis, Kyriakos, Mayer, Iris, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Mueller‐Kaempffer, Katharina, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Niederschweiberer, Johanna, Nolte, Anja, Odorfer, Thorsten, Omran, Heymut, Pauschek, Josefine, Pickrodt, Katrin, Plecko, Barbara, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Reinhardt, Tabea, Rödiger, Annekathrin, Roetmann, Gerda, Saffari, Afshin, Schimmel, Mareike, Schlachter, Kurt, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwartz, Oliver, Schwerin‐Nagel, Anette, Schwersenz, Inge, Smitka, Martin, Stein, Sabine, Steinbach, Robert, Steiner, Elisabeth, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Theophil, Manuela, Thiele, Simone, Topakian, Raffi, Trollmann, Regina, Türk, Matthias, van der Stam, Lieske, Vill, Katharina, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiler, Markus, Weiß, Claudia, Weiss, Deike, Weiss, Simone, Wenzel, Franziska, Wider, Sabine, Wiebe, Nils, Wiegand, Gert, Wilichowski, Ekkehard, Wilken, Bernd, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, and Ziegler, Andreas

Subjects
Adult, Proteomics, Adolescent, Oligonucleotides, Medizin, Cathepsin D, Atròfia muscular espinal -- Tractament, Muscular Atrophy, Spinal, Neurology, Humans, Neurology (clinical), Child, Biomarkers, Aged
Abstract

Data de publicació electrònica: 23-03-2022 Background and purpose: The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision-making remains challenging, underlining the persistent need for validated biomarkers. Methods: We applied untargeted proteomic analyses to determine biomarkers in cerebrospinal fluid (CSF) samples of SMA patients under treatment with nusinersen. Identified candidate proteins were validated in CSF samples of SMA patients by Western blot and enzyme-linked immunosorbent assay. Furthermore, levels of peripheral neurofilament heavy and light chain were determined. Results: Untargeted proteomic analysis of CSF samples of three SMA type 1 patients revealed the lysosomal protease cathepsin D as a candidate biomarker. Subsequent validation analysis in a larger cohort of 31 pediatric SMA patients (type 1, n = 12; type 2, n = 9; type 3, n = 6; presymptomatically treated, n = 4; age = 0-16 years) revealed a significant decline of cathepsin D levels in SMA patients aged ≥2 months at the start of treatment. Although evident in all older age categories, this decline was only significant in the group of patients who showed a positive motor response. Moreover, downregulation of cathepsin D was evident in muscle biopsies of SMA patients. Conclusions: We identified a decline of cathepsin D levels in CSF samples of SMA patients under nusinersen treatment that was more pronounced in the group of "treatment responders" than in "nonresponders." We believe that our results indicate a suitability of cathepsin D levels as a possible biomarker in SMA also in older patients, in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients. Funding: H.L. receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). This work was also supported by a grant of the French Muscular Dystrophy Association (AFM-Téléthon;#21466) to A.R. The work of B.W. is supported by the German Research Foundation (Wi945/17-1, SFB 1451 [project-ID 431549029–A01] and GRK1960 [project ID 233886668]), the European Research Council under the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement 956185 (SMABEYOND), and the Center for Molecular Medicine Cologne (project No C18)

Published
2022

12. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, and Husain, Ralf A

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, MUSCLE weakness, CHILDREN'S hospitals, MOVEMENT disorders
Abstract

5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, however, long-term experience is still scarce. In contrast to clinical trial data with restricted patient populations and short observation periods, we report here real-world evidence on a broad spectrum of patients with early-onset spinal muscular atrophy treated with nusinersen focusing on effects regarding motor milestones, and respiratory and bulbar insufficiency during the first years of treatment. Within the SMArtCARE registry, all patients under treatment with nusinersen who never had the ability to sit independently before the start of treatment were identified for data analysis. The primary outcome of this analysis was the change in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and motor milestones considering World Health Organization criteria. Further, we evaluated data on the need for ventilator support and tube feeding, and mortality. In total, 143 patients with early-onset spinal muscular atrophy were included in the data analysis with a follow-up period of up to 38 months. We observed major improvements in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Improvements were greater in children >2 years of age at start of treatment than in older children. 24.5% of children gained the ability to sit independently. Major improvements were observed during the first 14 months of treatment. The need for intermittent ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression and survival in patients with early-onset spinal muscular atrophy. Major improvements in motor function are seen in children younger than 2 years at the start of treatment. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function. [ABSTRACT FROM AUTHOR]

Published
2023
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15. 'Gesundheitsbezogene Lebensqualität bei PatientInnen mit Neurodermitis (Atopische Dermatitis)

Author

Baumgartner, Manuela

Abstract

Hintergrund: Die Neurodermitis bzw. atopische Dermatitis ist eine chronische und nicht ansteckende Krankheit, die durch rote, schuppende, manchmal auch nässende Ekzeme charakterisiert ist. Der Juckreiz und die sichtbar erkrankten Hautstellen bedeuten für die Neurodermitis-PatientInnen oft eine Beeinträchtigung ihrer gesundheitsbezogenen Lebensqualität und stellen eine Belastung für die Psyche dar. Das Hauptziel dieser Diplomarbeit bestand darin, ein Messinstrument zur Erfassung der gesundheitsbezogenen Lebensqualität für Neurodermitis-PatientInnen zu finden, das zwischen den unterschiedlichen Gruppen der Schweregraden am besten differenzieren kann. Methodik: 205 Neurodermitis-PatientInnen nahmen an dieser Online-Querschnittstudie teil. Es wurden zwei Messinstrument zur Erfassung der gesundheitsbezogenen Lebensqualität eingesetzt. Ein generischer Fragebogen (Short Form-36 Health Survey, SF-36) und ein krankheitsspezifischer Fragebogen (Freiburger Fragebogen zur Lebensqualität bei Dermatosen, FLQA-d*) wurden psychometrisch miteinander verglichen. Zusätzlich wurde die allgemeine psychische Belastung (Brief Symptom Inventory, BSI-53) der Neurodermitis-PatientInnen miterhoben. Ergebnis: Zur Erfassung der gesundheitsbezogenen Lebensqualität bei Neurodermitis-PatientInnen erbrachte der FLQA-d* bessere Ergebnisse als die SF-36. Das krankheitsspezifische Verfahren ist dem generischen Verfahren überlegen und kann besser zwischen den verschiedenen Gruppen von Schweregraden differenzieren. Bei PatientIn-nen mit schwerwiegender Neurodermitis wurde eine signifikant höhere psychische Belas-tung als bei PatientInnen leichter und mittelgradiger Neurodermitis Ausprägung gefunden., Background: Neurodermatitis (also known as atopic dermatitis) is a chronic but not infectious disease that is often characterized by redenss of skin, peeling and oozing eczemas. Itches and visibly affected skin areas often impair patients health-related quality of life and diminish their emotional well-being. This diploma thesis was trying to find an appropriate measuring instrument for health-related quality of life in patients with neurodermatitis, one that is also capable of distinguishing between different degrees of this chronic disease. Methods: 205 patients with neurodermatitis were enrolled in this cross-sectional online study and two different measuring instruments were used in order to assess health-related quality of life. One was the generic Short Form-36 Health Survey (SF-36) and the other one was the disease-specific Freiburg Life Quality Assessment (FLQA-d*). Results of both questionnaires were then compared to each other. In addition to this psychological distress was assessed using the Brief Symptom Inventroy (BSI-53). Results: For health-related quality of life in patients with neurodermatitis the FLQA-d* provided us with more convincing results than the SF-36. Results suggest that the disease-specific instruments is superior compared to the generic instrument and more capable of distinguishing between different degrees of this disease. Furthermore patients with severe neurodermatitis showed a significantly higher level of psychological distress than patients with mild and medium cases of neurodermatitis.

Published
2016
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17. Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Author

Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional

Published
2015
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18. Transcriptional regulator PRDM12 is essential for human pain perception

Author

Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional

Published
2015
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21. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Author

Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, and Pechmann A

Subjects
Humans, Infant, Newborn, Female, Male, Infant, Germany, Registries, Muscular Atrophy, Spinal diagnosis, Pilot Projects, Early Diagnosis, Neonatal Screening methods
Abstract

Importance: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking., Objective: To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset., Design, Setting, and Participants: This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3 SMN2 copies. The registry includes data from 70 participating centers in Germany, Austria, and Switzerland. Data analysis was performed in February 2023 so that all patients had a minimal follow-up of 18 months., Exposure: Patients born in 2 federal states in Germany underwent screening in a newborn screening pilot project. All other patients were diagnosed after clinical symptom onset. All patients received standard care within the same health care system., Main Outcomes: The primary end point was the achievement of motor milestones., Results: A total of 234 children (123 [52.6%] female) were identified who met inclusion criteria and were included in the analysis: 44 (18.8%) in the newborn screening cohort and 190 children (81.2%) in the clinical symptom onset cohort. The mean (SD) age at start of treatment with 1 of the approved disease-modifying drugs was 1.3 (2.2) months in the newborn screening cohort and 10.7 (9.1) months in the clinical symptom onset cohort. In the newborn screening cohort, 40 of 44 children (90.9%) gained the ability to sit independently vs 141 of 190 (74.2%) in the clinical symptom onset cohort. For independent ambulation, the ratio was 28 of 40 (63.6%) vs 28 of 190 (14.7%)., Conclusions and Relevance: This nonrandomized controlled trial demonstrated effectiveness of newborn screening for infants with SMA in the real-world setting. Functional outcomes and thus the response to treatment were significantly better in the newborn screening cohort compared to the unscreened clinical symptom onset group., Trial Registration: German Clinical Trials Register: DRKS00012699.

Published
2024
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22. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Author

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, and Kirschner J

Subjects
Infant, Adult, Child, Humans, Prospective Studies, Walking, Registries, Disease Progression, Spinal Muscular Atrophies of Childhood drug therapy, Muscular Atrophy, Spinal drug therapy
Abstract

Background and Objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months., Methods: SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function., Results: Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients., Conclusion: Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.

Published
2023
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23. Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Author

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, and Senderek J

Published
2015
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