Search

Your search keyword '"Plecko, Barbara"' showing total 578 results
Start Over Author "Plecko, Barbara"
578 results on '"Plecko, Barbara"'

4. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Author

Skorvanek, Matej, Rektorova, Irena, Mandemakers, Wim, Wagner, Matias, Steinfeld, Robert, Orec, Laura, Han, Vladimir, Pavelekova, Petra, Lackova, Alexandra, Kulcsarova, Kristina, Ostrozovicova, Miriam, Gdovinova, Zuzana, Plecko, Barbara, Brunet, Theresa, Berutti, Riccardo, Kuipers, Demy J.S., Boumeester, Valerie, Havrankova, Petra, Tijssen, M.A.J., Kaiyrzhanov, Rauan, Rizig, Mie, Houlden, Henry, Winkelmann, Juliane, Bonifati, Vincenzo, Zech, Michael, and Jech, Robert

Published
2022
Full Text
View/download PDF

6. Stoffwechselbedingte Myopathien

Author

Plecko, Barbara, Hoffmann, Georg F., Section editor, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, Zepp, Fred, editor, Berner, Reinhard, editor, Schaub, Jürgen, Founding Editor, and Schulte, Franz-Josef, Founding Editor

Published
2020
Full Text
View/download PDF

7. Vitaminresponsive Enzephalopathien

Author

Plecko, Barbara, Hoffmann, Georg. F., Section editor, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, Zepp, Fred, editor, Berner, Reinhard, editor, Schaub, Jürgen, Founding Editor, and Schulte, Franz-Josef, Founding Editor

Published
2020
Full Text
View/download PDF

9. Monogenic variants in dystonia: an exome-wide sequencing study

Author

Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, and Winkelmann, Juliane

Published
2020
Full Text
View/download PDF

10. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Author

Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, and Janssens, Veerle

Published
2021
Full Text
View/download PDF

12. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome

Author

Roesch, Sebastian, primary, O´Sullivan, Anna, additional, Tschani, Stefan, additional, Mayr, Johannes A., additional, Baghdasaryan, Anna, additional, Balasubramaniam, Shanti, additional, Barić, Ivo, additional, de Boer, Lonneke, additional, Grünert, Sarah C., additional, Guzek, Anna, additional, Janssen, Mirian, additional, Krumina, Zita, additional, Koenig, Mary Kay, additional, Mochel, Fanny, additional, Naldi, Arianne Monge, additional, Plecko, Barbara, additional, Öztürk, Kerem, additional, Riordan, Gillian, additional, Rymen, Daisy, additional, Santer, René, additional, Schiff, Manuel, additional, Stettner, Georg M., additional, Tsiakas, Konstantinos, additional, Uçar, Sema Kalkan, additional, Uzun, Özlem Ünal, additional, Weigel, Corina, additional, Witters, Peter, additional, Iwanicka-Pronicka, Katarzyna, additional, and Wortmann, Saskia B., additional

Published
2023
Full Text
View/download PDF

20. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Author

Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Deciphering Developmental Disorders (DDD) Study, Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, and Rauch, Anita

Published
2019
Full Text
View/download PDF

21. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Author

Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, and Rauch, Anita

Published
2019
Full Text
View/download PDF

22. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

Author

Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M Clara Sá, Wraith, J Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J, Plecko, Barbara, Steiner, Robert, Whitley, Chester B, Kaplan, Paige, Swiedler, Stuart J, Hardy, Karen, Berger, Kenneth I, and Decker, Celeste

Subjects
Lung, Humans, Mucopolysaccharidosis VI, N-Acetylgalactosamine-4-Sulfatase, Recombinant Proteins, Placebos, Respiratory Function Tests, Longitudinal Studies, Cross-Sectional Studies, Double-Blind Method, Research Design, Adolescent, Adult, Child, Child, Preschool, Preschool, Clinical Sciences, Genetics & Heredity
Abstract

Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rhN-acetylgalactosamine 4-sulfatase). Pulmonary function tests prior to and for up to 240 weeks of weekly infusions of rhASB at 1 mg/kg were completed in 56 patients during Phase 1/2, Phase 2, Phase 3 and Phase 3 Extension trials of rhASB and the Survey Study. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and, in a subset of patients, maximum voluntary ventilation (MVV), were analyzed as absolute volume in liters. FEV1 and FVC showed little change from baseline during the first 24 weeks of ERT, but after 96 weeks, these parameters increased over baseline by 11% and 17%, respectively. This positive trend compared with baseline continued beyond 96 weeks of treatment. Improvements from baseline in pulmonary function occurred along with gains in height in the younger group (5.5% change) and in the older patient group (2.4% change) at 96 weeks. Changes in MVV occurred earlier within 24 weeks of treatment to approximately 15% over baseline. Model results based on data from all trials showed significant improvements in the rate of change in pulmonary function during 96 weeks on ERT, whereas little or no improvement was observed for the same time period prior to ERT. Thus, analysis of mean percent change data and longitudinal modeling both indicate that long-term ERT resulted in improvement in pulmonary function in MPS VI patients.

Published
2010

25. Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency.

Author

Kalser, Judith, Giuliano, Fabienne, Peralta, Maria, Plecko, Barbara, and Bölsterli, Bigna K.

Subjects
EPILEPSY, INFANTILE spasms, EYE movement disorders, VITAMIN B6, INFANTS, PEOPLE with epilepsy
Abstract

To describe a new phenotype and the diagnostic workup of a vitamin-B6-dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months. Following immediate and impressive clinical response to treatment with pyridoxine, metabolic screening for vitamin-B6-dependent epilepsies and targeted next-generation sequencing (NGS)-based gene panel analysis were performed. Potentially pathogenic variants were confirmed by Sanger sequencing in the patient, and variants were analyzed in both parents to confirm biallelic inheritance. The clinical phenotype and course of disease were compared to the 44 cases reported in the literature, harboring variants in pyridoxal phosphate homeostasis protein (PLPHP) and with cases of vitamin-B6-dependent epilepsy due to other known causative genes. Levels of alpha-aminoadipic semialdehyde in urine and amino acids were normal. Two inherited pathogenic variations in PLPHP were found in compound heterozygosity, including one novel deletion. We here describe a previously unreported individual harboring biallelic pathogenic PLPHP variants presenting with paroxysmal eye–head movements followed by epileptic spasms and an almost normal interictal electroencephalogram, thus expanding the clinical spectrum of PLPBP deficiency. This warrants consideration of vitamin-B6-dependent epilepsies in patients with early-onset epilepsy, including epileptic spasms, and eye movement disorders also beyond the neonatal period even when metabolic screening for vitamin-B6-dependent epilepsies is negative. PLPHP should be included systematically in NGS epilepsy gene panels. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

30. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Author

van Karnebeek, Clara D. M., Stockler-Ipsiroglu, Sylvia, Jaggumantri, Sravan, Assmann, Birgit, Baxter, Peter, Buhas, Daniela, Bok, Levinus A., Cheng, Barbara, Coughlin, Curtis R., II, Das, Anibh M., Giezen, Alette, Al-Hertani, Wahla, Ho, Gloria, Meyer, Uta, Mills, Philippa, Plecko, Barbara, Struys, Eduard, Ueda, Keiko, Albersen, Monique, Verhoeven, Nanda, Gospe, Sidney M., Jr., Gallagher, Renata C., Van Hove, Johan K. L., Hartmann, Hans, 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
2015
Full Text
View/download PDF

34. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author

Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M, Ballhausen, Diana, Baumgartner, Matthias R, Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A, Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Märtner, E M Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, et al, University of Zurich, and Boy, Nikolas

Subjects
2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 610 Medicine & health
Published
2023
Full Text
View/download PDF

36. Neurometabolische und neurodegenerative Erkrankungen

Author

Hanefeld, Folker, Kohlschütter, Alfried, Brockmann, Knut, Henneke, Marco, Assmann, Birgit, Plecko, Barbara, Wolf, Nicole, Korinthenberg, Rudolf, Hoffmann, Georg F., editor, Lentze, Michael J., editor, Spranger, Jürgen, editor, and Zepp, Fred, editor

Published
2014
Full Text
View/download PDF

39. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Author

Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, and Rauch, Anita

Published
2019
Full Text
View/download PDF

40. On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies.

Author

Plecko, Barbara

Abstract

Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1,PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in neurotransmitter and amino acid metabolism. In addition, positive pyridoxine response has been observed in other monogenic defects such as MOCS2 deficiency or KCNQ2 and there may be more defects to be discovered. Most entities lead to neonatal onset pharmaco‐resistant myoclonic seizures or even status epilepticus and pose an emergency to the treating physician. Research has unraveled specific biomarkers for several of these entities (PNPO deficiency, ALDH7A1 deficiency, ALDH4A1 deficiency, ALPL deficiency causing congenital hypophosphatasia and glycosylphosphatidylinositol anchoring defects with hyperphosphatasia), that can be detected in plasma or urine, while there is no biomarker to test for PLPHP deficiency. Secondary elevation of glycine or lactate was recognized as diagnostic pitfall. An algorithm for a standardized trial with vitamin B6 should be in place in every newborn unit in order not to miss these well‐treatable inborn errors of metabolism. The Komrower lecture of 2022 provided me with the opportunity to tell the story about the conundrums of research into vitamin B6‐dependent epilepsies that kept some surprises and many novel insights into pathomechanisms of vitamin metabolism. Every single step had benefits for the patients and families that we care for and advocates for a close collaboration of clinician scientists with basic research. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

43. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author

Boy, Nikolas, primary, Mühlhausen, Chris, additional, Maier, Esther M., additional, Ballhausen, Diana, additional, Baumgartner, Matthias R., additional, Beblo, Skadi, additional, Burgard, Peter, additional, Chapman, Kimberly A., additional, Dobbelaere, Dries, additional, Heringer‐Seifert, Jana, additional, Fleissner, Sandra, additional, Grohmann‐Held, Karina, additional, Hahn, Gabriele, additional, Harting, Inga, additional, Hoffmann, Georg F., additional, Jochum, Frank, additional, Karall, Daniela, additional, Konstantopoulous, Vassiliki, additional, Krawinkel, Michael B., additional, Lindner, Martin, additional, Märtner, E. M. Charlotte, additional, Nuoffer, Jean‐Marc, additional, Okun, Jürgen G., additional, Plecko, Barbara, additional, Posset, Roland, additional, Sahm, Katja, additional, Scholl‐Bürgi, Sabine, additional, Thimm, Eva, additional, Walter, Magdalena, additional, Williams, Monique, additional, vom Dahl, Stephan, additional, Ziagaki, Athanasia, additional, Zschocke, Johannes, additional, and Kölker, Stefan, additional

Published
2022
Full Text
View/download PDF

46. 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, Kirschner, Janbernd, Ameshofer, Lisa, Andres, Barbara, Angelova-Toshkina, Daniela, Banholzer, Daniela, Bant, Christina, Baum, Petra, Baumann, Sandra, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Böger, Sandra, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Nathalie, Braun, Sarah, Brauner, Brigitte, Bretschneider, Christa, Burgenmeister, Nadine, Burke, Bea, Cirak, Sebahattin, Dall, Andrea, de Vries, Heike, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dibrani, Zylfie, Diebold, Uta, Dondit, Lutz, Drebes, Jessica, Driemeyer, Joenna, Dukic, Vladimir, Eckenweiler, Matthias, Eminger, Mirjam, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gaiser, Philippa, Gangfuß, Andrea, Geitmann, Stephanie, George, Annette, Gosk-Tomek, Magdalena, Grinzinger, Susanne, Gröning, Kristina, Groß, Martin, Güttsches, Anne-Katrin, Hagenmeyer, Anna, Hartmann, Hans, Haverkamp, Julia, Hiebeler, Miriam, Hoevel, Annegret, Hoffmann, Georg Friedrich, Holtkamp, Britta, Holzwarth, Dorothea, Homma, Annette, Horneff, Viola, Hörnig, Carolin, Hotter, Anna, Hubert, Andrea, Huppke, Peter, Jansen, Eva, Jung, Lisa, Kaiser, Nadja, Kappel, Stefan, Katharina, Bolte, Koch, Johannes, Kölke, Stefan, Korschinsky, Brigitte, Kostede, Franziska, Krause, Karsten, Küpper, Hanna, Lang, Annina, Lange, Irene, Langer, Thorsten, Lechner, Yvonne, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Löscher, Wolfgang, Luiking, Antje, Machetanz, Gerrit, Malm, Eva, Martakis, Kyriakos, Menzen, Bettina, Metelmann, Moritz, Meyer zu Hörste, Gerd, Montagnese, Federica, Mörtlbauer, Kathrin, Müller, Petra, Müller, Anne, Müller, Anja, Müschen, Lars, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Petri, Susanne, Pilshofer, Veronika, Plecko, Barbara, Pollok, Jürgen, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Raffler, Sabine, Ramadan, Barbara, Rappold, Mika, Rauscher, Christian, Reckmann, Kerstin, Reinhardt, Tabea, Röder, Melanie, Roland-Schäfer, Doris, Roth, Erdmute, Ruß, Lena, Saffari, Afshin, Schimmel, Mareike, Schlag, Melina, Schlotter-Weigel, Beate, Schneider, Joanna, Schöne-Bake, Jan-Christoph, Schorling, David, Schreiner, Isabella, Schüssler, Stephanie, Schwarzbach, Michaela, Schwippert, Michaela, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steffens, Paula, Steuernagel, Daniela, Stolte, Benjamin, Stoltenburg, Corinna, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Topakian, Raffi, Türk, Matthias, van der Stam, Lieske, Vettori, Katia, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiebe, Nils Ole, Wiesenhofer, Anna, Wiethoff, Sarah, Wirner, Corinna, Wohnrade, Camilla, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, and Zobel, Joachim

Subjects
Medizin, Pharmacology (medical), General Medicine, ddc:610, Genetics (clinical)
Abstract

Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. Methods SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Results Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Conclusion Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity.

Published
2022

Catalog

Books, media, physical & digital resources
See catalog results