Ethics approval and consent to participate:
The local ethics committee of the participating universities (Ludwig-Maximilians-University of Munich, University of Munster and University of Essen, project no. 18- 269) approved the study.
Consent for Publication:
Informed consent was obtained from the participating families, except from those who did not make appointments from the start or did not take up the treatment options.
Availability of data and materials:
All data from CHOP INTEND, HINE-2 and electrophysiology can be shared and is available at the author’s institution in Munich, Dr. v. Haunersches Kinderspital, Lindwurmstr. 4, 80337 München, Germany.
Competing interests:
All authors have indicated they have no potential non-financial conflicts of interest.
Financial Disclosure:
Astrid Blaschek, Bernhard Olgemöller, Erik Harms, Katja Eggermann and Uta Nennstiel have nothing to declare.
Marc Becker is the owner of a commercial entity (Laboratory Becker and colleagues MVZ GbR, Führichstraße 70, 81871 München, Germany)
Siegfried Burggraf, Wulf Röschinger, Jürgen Durner, Ludwig Czibere are employed by of a commercial entity (Laboratory Becker and colleagues MVZ GbR, Führichstraße 70, 81871 München, Germany)
Dieter Gläser is co-owner of a commercial entity (Genetikum ®, Wegenerstr. 15, 89231 Neu-Ulm, Germany)
Katharina Vill received travel and speaker honoraria from Biogen.
Oliver Schwartz is serving on a scientific advisory board for Avexis and received travel and speaker honorarias from Biogen.
Heike Kölbel is serving on a scientific advisory board for Avexis and received travel and received speaker honoraria from Biogen and Sanofi-Aventis.
Ulrika Schara is serving on a scientific advisory board or data safety monitoring board for Biogen, Avexis and Novartis and received speaker honoraria from Biogen, Avexis, PTC and Sanofi-Aventis
Brunhilde Wirth is serving on a scientific advisory board or data safety monitoring board for SMA Europe and received travel and speaker honoraria from Biogen
Wolfgang Müller-Felber is serving on a scientific advisory board for Biogen, Avexis, PTC, Sanofi-Aventis, Roche and Cytokinetics and received travel and speaker honoraria from Biogen, Avexis, PTC and Sanofi-Aventis.
Funding Sources:
The cystinosis foundation funded the pilot project between January 2018 and May 2019. The funding body had no role in the design of the study, neither in collection, analysis and interpretation of data, neither in writing the manuscript.
Author’s contribution:
Katharina Vill and Wolfgang Müller-Felber conceptualized and designed the study, collected clinical and electrophyisological data, drafted the initial manuscript, and reviewed and revised the manuscript.
Oliver Schwartz and Heike Kölbel conceptualized and designed the study, collected clinical and electrophyisological data and reviewed the manuscript
Astrid Blaschek and Ulrike Schara collected clinical and electrophyisological data and reviewed the manuscript
Katja Eggermann and Dieter Gläser performed the genetic confirmation and th SMN2 copy number determination and reviewed the manuscript
Uta Nennstiel performed the official tracking of the patients and reviewed the manuscript
Siegfried Burggraf, Marc Becker, Ludwig Czibere and Jürgen Durner performed the newborn screening from DBS
Wulf Röschinger, performed the newborn screening from DBS and reviewed the manuscript
Erik Harms Bernhard Olgemöller initiatited the model project and critically reviewed the manuscript for important intellectual content.
Brunhilde Wirth gave technical and scientific advice and critically reviewed the manuscript for important intellectual content.
All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Acknowledgements: The authors thank all parents of the infants who participated in this study, as well as the physiotherapists Barbara Andres, Stefan Grziwa, Karin Hoffmann, Maren Nitzsche, Elisabeth Rothenfußer, Birgit Warken, and Therese Well, who carried out the CHOP INTEND Scores, and the cystinosis foundation for the initial support.