Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K (2023)

Publication Type: Journal article

Publication year: 2023

Journal

Book Volume: 10

Pages Range: 55-65

Journal Issue: 1

DOI: 10.3233/JND-221577

Abstract

Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing.

Authors with CRIS profile

Involved external institutions

Klinikum der Universität München Germany (DE) Universitätsklinikum Münster Germany (DE) genetikum – Genetische Beratung & Diagnostik Germany (DE) Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit (LGL) Germany (DE) Universität zu Köln Germany (DE) Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen Germany (DE) Universität Duisburg-Essen (UDE) Germany (DE) Deutsche Akademie für Kinder- und Jugendmedizin e.V. (DAKJ) Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Universitätsklinikum Heidelberg Germany (DE) Universität Ulm Germany (DE) Universitätsklinikum Gießen und Marburg (UKGM) Germany (DE) Universitätsklinikum Carl Gustav Carus Dresden Germany (DE) Charité - Universitätsmedizin Berlin Germany (DE) Klinikum Kassel GmbH Germany (DE) Universitätsklinikum des Saarlandes (UKS) Germany (DE) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Universitätsklinikum Freiburg Germany (DE) Universitätsklinikum Tübingen Germany (DE) Ruhr-Universität Bochum (RUB) Germany (DE) Universitätsklinikum Mannheim Germany (DE) Universitätsklinikum Bonn Germany (DE)

How to cite

APA:

Müller-Felber, W., Blaschek, A., Schwartz, O., Gläser, D., Nennstiel, U., Brockow, I.,... Vill, K. (2023). Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany. Journal of Neuromuscular Diseases, 10(1), 55-65. https://doi.org/10.3233/JND-221577

MLA:

Müller-Felber, Wolfgang, et al. "Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany." Journal of Neuromuscular Diseases 10.1 (2023): 55-65.

BibTeX: Download