Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

Published:2024-06-01 Issue:6 Volume:178 Page:540
ISSN:2168-6203
Container-title:JAMA Pediatrics
language:en
Short-container-title:JAMA Pediatr

Author:

Schwartz Oliver¹,Vill Katharina²³,Pfaffenlehner Michelle⁴⁵,Behrens Max⁴⁵,Weiß Claudia⁶,Johannsen Jessika⁷,Friese Johannes⁸,Hahn Andreas⁹,Ziegler Andreas¹⁰,Illsinger Sabine¹¹,Smitka Martin¹²,von Moers Arpad¹³,Kölbel Heike¹⁴,Schreiber Gudrun¹⁵,Kaiser Nadja¹⁶,Wilichowski Ekkehard¹⁷,Flotats-Bastardas Marina¹⁸,Husain Ralf A.¹⁹,Baumann Matthias²⁰,Köhler Cornelia²¹,Trollmann Regina²²,Schwerin-Nagel Annette²³,Eisenkölbl Astrid²⁴,Schimmel Mareike²⁵,Fleger Martin²⁶,Kauffmann Birgit²⁷,Wiegand Gert²⁸,Baumgartner Manuela²⁹,Rauscher Christian³⁰,Cirak Sebahattin³¹,Gläser Dieter³²,Bernert Günther³³,Hagenacker Tim³⁴,Goldbach Susanne³⁵,Probst-Schendzielorz Kristina³⁵,Lochmüller Hanns³⁶³⁷,Müller-Felber Wolfgang²,Schara-Schmidt Ulrike¹⁴,Walter Maggie C.³⁸,Kirschner Janbernd³⁷,Pechmann Astrid³⁷, ,Baum Petra³⁹,Metelmann Moritz³⁹,Zeiner Fiona³⁹,Löscher Wolfgang³⁹,Pilshofer Veronika³⁹,Mörtlbauer Kathrin³⁹,Pernegger Elke³⁹,Elmecker Anna³⁹,Neimair Tanja³⁹,Angermair Verena³⁹,Rappold Mika³⁹,Ille Alexandra³⁹,Gosk - Tomek Magdalena³⁹,Wiesenhofer Anna³⁹,Vettori Katia³⁹,Hüpper Anna³⁹,Stadler Theresa³⁹,Bertsche Astrid³⁹,Pauschek Josefine³⁹,Blankenburg Markus³⁹,Reihle Christof³⁹,Schroth Michael³⁹,Braun Sarah³⁹,Wendel Eva-Maria³⁹,Haverkamp Julia³⁹,Banholzer Daniela³⁹,Homma Annette Karolin³⁹,Denecke Jonas³⁹,Driemeyer Joenna³⁹,Weiss Deike³⁹,Steffens Paula-Sophie³⁹,Taherpour Jila³⁹,Deschauer Marcus³⁹,Lingor Paul³⁹,Semmler Luisa³⁹,Machetanz Gerrit³⁹,Eckenweiler Matthias³⁹,Henzi Bettina³⁹,Müller Cornelia³⁹,Langer Thorsten³⁹,Wider Sabine³⁹,Hug Juliane³⁹,Stein Sabine³⁹,Vogt Sibylle³⁹,Dörnbrack Katharina³⁹,Saier Christina³⁹,Tassoni Adrian³⁹,Wenzel Franziska³⁹,Kampowski Tim³⁹,Gebert Axel³⁹,Steiner Elisabeth³⁹,Pühringer Manuel³⁹,Baumann Sandra³⁹,Dall Andrea³⁹,Bant Christina³⁹,Reinhardt Tabea³⁹,Zemlin Michael³⁹,Hettrich Sabine³⁹,Holzwarth Dorothea³⁹,Geitmann Stephanie³⁹,Dworschak Gabriel³⁹,Busch Franziska³⁹,Baur Ute³⁹,Richmann Marion³⁹,Geis Tobias³⁹,Wittmann Wolfgang³⁹,Goldhahn Klaus³⁹,Theophil Manuela³⁹,von Moers Arpad³⁹,Müller-Kaempffer Katharina³⁹,Zeisler Daniela³⁹,Bühner Kathrin³⁹,Nicolai Sylke³⁹,Groß Martin³⁹,Kappel Stefan³⁹,Günther René³⁹,Freigang Maren³⁹,Lapp Hanna Sophie³⁹,Dittes Isabelle³⁹,Wessel Maria³⁹,Stolte Benjamin³⁹,Brakemeier Svenja³⁹,Thimm Andreas³⁹,Lipka Jaqueline³⁹,Schlag Melina³⁹,Martakis Kyriakos³⁹,Gehrke Tascha³⁹,Quinten Lisa³⁹,Hackemer Andrea³⁹,Ruß Lena³⁹,Atta Omar³⁹,Lang Annina³⁹,Hamelmann Eckard³⁹,Classen Georg³⁹,Ntemiris Klearchos³⁹,Albers Kristina³⁹,Plugge Loreen³⁹,Horber Veronka³⁹,Roland-Schäfer Doris³⁹,Bevot Andrea³⁹,Jansen Eva³⁹,Küpper Hanna³⁹,Meßmer Birgit³⁹,Steuernagel Daniela³⁹,Borowski Sabine³⁹,Bretschneider Christa³⁹,Roth Erdmute³⁹,Müller Anja³⁹,de Vries Heike³⁹,Hartmann Hans³⁹,Ramadan Barbara³⁹,Kamm Christoph³⁹,Fischer Sophie³⁹,Wermuth Marieke³⁹,Hustedt Ulf³⁹,Koch Jan Christoph³⁹,Muhandes Mohamad Tareq³⁹,Baum Tobias³⁹,Hotter Anna³⁹,Ludolph Albert³⁹,Uzelac Zeljko³⁹,Witzel Simon³⁹,Dorst Johannes³⁹,Schuster Joachim³⁹,Wollinsky Kurt³⁹,Martin Pascal³⁹,Mensch Alexander³⁹,Naegel Steffen³⁹,Schneider Ilka³⁹,Kendzierski Thomas³⁹,Koelsch Anna³⁹,Meyer zu Hörste Gerd³⁹,Wiethoff Sarah³⁹,Akova-Oztürk Esra³⁹,Blaschek Astrid³⁹,Hannibal Iris³⁹,Warken-Madelung Birgit³⁹,Well Therese³⁹,Rotenfusser Elisabeth³⁹,Nitzsche Maren³⁹,Neuwirth Christoph³⁹,Braun Nathalie³⁹,Dibrani Zylfie³⁹,Bischofberger Jasmin³⁹,Petri Susanne³⁹,Bjelica Bogdan³⁹,Wohnrade Camilla³⁹,Riesmeier Tilman³⁹,Schwippert Michaela³⁹,Leinert Antonia³⁹,Oscmanovic Alma³⁹,Schreiber-Katz Olivia³⁹,Eisenkölbl Astrid³⁹,Rathmann Imke³⁹,Schäfer Dorothee³⁹,Della-Marina Adela³⁹,Gangfuß Andrea³⁹,Holtkamp Britta³⁹,Andres Barbara³⁹,Renger Isabelle³⁹,Angelova-Toshkina Daniela³⁹,Jung Lisa³⁹,Schrank Bertold³⁹,Wilken Bernd³⁹,Osmanovic Alma³⁹,Fiedler Barbara³⁹,Deba Timo³⁹,Johann to Settel Eva³⁹,Köbbing Katja³⁹,Omran Heymut³⁹,Guillemot Hélène³⁹,Plecko Barbara³⁹,Zobel Joachim³⁹,Grässl Michael³⁹,Claeys Sander³⁹,von der Hagen Maja³⁹,Schallner Jens³⁹,Fiebig Susan³⁹,Foerster Sandy³⁹,Claus Nicole³⁹,Lehnert Ilka³⁹,Hammer Julie³⁹,Steinbach Meike³⁹,Tomforde Maike³⁹,Stoffels Johannes³⁹,Voelkl Thomas³⁹,Kraut Christina³⁹,Hollerauer Carmen³⁹,Seeber Lea³⁹,Grünwedel Mike³⁹,Topakian Raffi³⁹,Müller Petra³⁹,Vollmann Peter³⁹,Krahwinkler Ina³⁹,Behring Bettina³⁹,Schüssler Stephanie³⁹,Türk Matthias³⁹,Vorgerd Matthias³⁹,Güttsches Anne³⁹,Roeder Melanie³⁹,Lange Irene³⁹,Reilich Peter³⁹,Hiebeler Miriam³⁹,Montagnese Federica³⁹,Thiele Simone³⁹,Hagenmeyer Anna³⁹,Grimm Laura³⁹,Wirner-Piotrowski Corinna³⁹,Weiler Markus³⁹,Wick Wolfgang³⁹,Berberich Nicole³⁹,Mann-Richter Marcel³⁹,Rochau-Trumpp Heidi³⁹,Schnurr Marion³⁹,Stocker Guido³⁹,Stoltenburg Corinna³⁹,Schneider Joanna³⁹,Wagner Alexandra³⁹,George Annette³⁹,Dukic Vladimir³⁹,Kaindl Angela M.³⁹,van der Stam Lieske³⁹,Wunderlich Gilbert³⁹,Wurster* Claudia Diana³⁹,Dorst* Johannes³⁹,Schuster* Joachim³⁹,Ludolph* Albert Christian³⁹,Zeller Daniel³⁹,Bellut Julia³⁹,Brauner Brigitte³⁹,Leypold Christine³⁹,Hoffmann Georg Friedrich³⁹,Kölker Stefan³⁹,Saffari Afshin³⁹,Niesert Moritz³⁹,Specht Sabine³⁹,Hoevel Annegret³⁹,Bongartz Anke³⁹,Zöller Daniela³⁹,Binder Harald³⁹,Hackenberg Maren³⁹

Affiliation:

1. Department of Pediatric Neurology, Münster University Hospital, Münster, Germany

2. Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany

3. Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany

4. Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany

5. Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany

6. Department of Pediatric Neurology and Center for Chronically Sick Children, Charité, University Medicine Berlin, Berlin, Germany

7. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

8. Department of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany

9. Department of Child Neurology, Justus-Liebig University, Giessen, Germany

10. Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany

11. Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany

12. Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

13. Department of Pediatrics und Neuropediatrics, Deutsches Rotes Kreuz Kliniken Berlin, Berlin, Germany

14. Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany

15. Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany

16. Department of Paediatric Neurology, University Children’s Hospital, Tübingen, Germany

17. Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Göttingen, Germany

18. Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany

19. Department of Neuropediatrics, Jena University Hospital, Jena, Germany

20. Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria

21. St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany

22. Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany

23. Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria

24. Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria

25. Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany

26. Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria

27. Departement of Pediatric Neurology, Eltern-Kind-Zentrum Prof. Hess, Central Hospital Bremen, Bremen, Germany

28. Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany

29. Department of Pediatrics and Adolescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria

30. Department of Pediatrics and Adolescent Medicine, Private Medical University of Salzburg, Salzburg, Austria

31. Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany

32. MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany

33. Department of Pediatrics, Clinic Favoriten, Vienna, Austria

34. Department of Neurology, and Center for Translational Neuro and Behavioral Sciences, University Medicine Essen, Essen, Germany

35. Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany

36. Children’s Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada

37. Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

38. Friedrich Baur Institute at the Department of Neurology, University Hospital, Ludwig Maximilians University, Munich, Munich, Germany

39. for the SMARTCARE study group

Abstract

ImportanceThere 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.ObjectiveTo compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset.Design, Setting, and ParticipantsThis 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.ExposurePatients 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 OutcomesThe primary end point was the achievement of motor milestones.ResultsA 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 RelevanceThis 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 RegistrationGerman Clinical Trials Register: DRKS00012699

Publisher

American Medical Association (AMA)

Link

https://jamanetwork.com/journals/jamapediatrics/articlepdf/2817302/jamapediatrics_schwartz_2024_oi_240012_1716226319.27702.pdf

Reference28 articles.

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2. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.;Cuscó;Neurol Genet,2020

3. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.;Pechmann;Brain,2023

4. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.;Crawford;Muscle Nerve,2023

5. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial.;Strauss;Nat Med,2022

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