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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
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; Pechmann, Astrid.
Afiliación
  • Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.
  • Vill K; 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.
  • Pfaffenlehner M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Behrens M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Weiß C; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
  • Johannsen J; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
  • Friese J; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.
  • Hahn A; Department of Pediatric Neurology and Center for Chronically Sick Children, Charité, University Medicine Berlin, Berlin, Germany.
  • Ziegler A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Illsinger S; Department of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany.
  • Smitka M; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.
  • von Moers A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölbel H; Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Schreiber G; Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Kaiser N; Department of Pediatrics und Neuropediatrics, Deutsches Rotes Kreuz Kliniken Berlin, Berlin, Germany.
  • Wilichowski E; Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.
  • Flotats-Bastardas M; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
  • Husain RA; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Baumann M; Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Göttingen, Germany.
  • Köhler C; Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany.
  • Trollmann R; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
  • Schwerin-Nagel A; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Eisenkölbl A; St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany.
  • Schimmel M; Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.
  • Fleger M; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
  • Kauffmann B; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.
  • Wiegand G; Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.
  • Baumgartner M; Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria.
  • Rauscher C; Departement of Pediatric Neurology, Eltern-Kind-Zentrum Prof. Hess, Central Hospital Bremen, Bremen, Germany.
  • Cirak S; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.
  • Gläser D; Department of Pediatrics and Adolescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.
  • Bernert G; Department of Pediatrics and Adolescent Medicine, Private Medical University of Salzburg, Salzburg, Austria.
  • Hagenacker T; Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.
  • Goldbach S; MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany.
  • Probst-Schendzielorz K; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.
  • Lochmüller H; Department of Neurology, and Center for Translational Neuro and Behavioral Sciences, University Medicine Essen, Essen, Germany.
  • Müller-Felber W; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.
  • Schara-Schmidt U; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.
  • Walter MC; 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.
  • Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Pechmann A; 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.
JAMA Pediatr ; 178(6): 540-547, 2024 Jun 01.
Article en En | MEDLINE | ID: mdl-38587854
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: JAMA Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: JAMA Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos