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Article History

Received: 17 January 2023

Accepted: 4 July 2023

First Online: 26 July 2023

Declarations

:

: All participants provided informed consent before being enrolled in the study. This study was conducted in compliance with Good Clinical Practice, including International Conference on Harmonization Guidelines and was consistent with the most recent version of the Declaration of Helsinki. Additionally, all applicable local laws and regulatory requirements were adhered to. Before recruiting participants, all study documents were submitted to and approved by an independent institutional review board at each site. All personal data were managed to ensure accordance with applicable national and/or local laws, and regulations on personal data protection.

: Not applicable.

: JT is an employee of F. Hoffmann-La Roche Ltd. CAB is the Principal Investigator for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. He is also the Principal Investigator for research trials in achondroplasia sponsored by BioMarin, Pfizer Pharmaceuticals, and Ascendis Pharmaceuticals. He is a co-investigator in the Undiagnosed Research Network grant sponsored by the NIH. He is a consultant for Best Doctors Inc. TJB has been a paid consultant for F. Hoffmann-La Roche Ltd. LMB has been a paid consultant for F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. regarding clinical trial design and is/has been a principal investigator on trials sponsored by F. Hoffmann-La Roche Ltd., Ionis Pharmaceuticals Inc., Biogen, and Ovid Therapeutics. MB is an employee of F. Hoffmann-La Roche Ltd. RC is an employee of Ionis Pharmaceuticals Inc. SJ serves as a consultant for Roche Pharmaceuticals. RWK was an employee of Biogen and is an employee of Ionis Pharmaceuticals Inc. MLK was an employee of F. Hoffmann-La Roche Ltd. COL was a principal investigator or co-investigator for clinical trials in Angelman syndrome sponsored by Ovid, F. Hoffmann-La Roche Ltd., GeneTx, Biogen, and Ionis Pharmaceuticals Inc. All funds from clinical trials were paid to Rush University Medical Center and COL did not keep any personal funds. MTM was an employee of F. Hoffmann-La Roche Ltd. DN is an employee of F. Hoffmann-La Roche Ltd. KP was an employee of Biogen. AR has been a paid consultant and has received research support from F. Hoffmann-La Roche Ltd. He has also received recent research support from BioMarin, CRE Medical, Encoded, LouLou Foundation, Neuroelectrics, SSADH Foundation, and Takeda. He is co-founder and has equity in PrevEp Inc. and Galibra Inc. ACW has been a paid consultant for F. Hoffmann-La Roche Ltd. AS has been a paid consultant for F. Hoffmann-La Roche Ltd. MDS was Principal Investigator or co-investigator for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd., Biogen, and Ionis Pharmaceuticals Inc.; and served as a consultant for Ionis Pharmaceuticals Inc. during the design of the trial before study startup. All funds were paid to the University of North Carolina, and MDS did not receive any personal funds. LS is an employee of F. Hoffmann-La Roche Ltd. WHT was a paid consultant for F. Hoffmann-La Roche Ltd. BV is an employee of F. Hoffmann-La Roche Ltd. AW was a paid consultant for F. Hoffmann-La Roche Ltd. And Ovid.JFH is an employee of F. Hoffmann-La Roche Ltd. EBK has received funding from Acadia, Alcobra, AMO, Asuragen, Avexis, Biogen, BioMarin, Cydan, Erydel Fulcrum, GeneTx, GW, Ionis Pharmaceuticals Inc., Jaguar, Lumos, Marinus, Neuren, Neurogene, Neurotrope, Novartis, Orphazyme, Ovid, Retrophin, Roche, Seaside Therapeutics, Taysha, Tetra, Ultragenyx, Yamo, Zynerba, and Vtesse/Sucampo/Mallinckrodt Pharmaceuticals, to consult on trial design or run clinical or lab validation trials in genetic neurodevelopmental or neurodegenerative disorders, all of which is directed to RUMC in support of rare disease programs; EBK receives no personal funds and RUMC has no relevant financial interest in any of the commercial entities listed.