Updates are available Correction dated 2021-06-01

Article History

Received: 11 June 2020

Accepted: 10 November 2020

First Online: 23 November 2020

Change Date: 1 June 2021

Change Type: Correction

Change Details: A Correction to this paper has been published:

Change Details: https://doi.org/10.1186/s13023-021-01855-9

Ethics approval and consent to participate

: The study protocol and associated documentation were approved by the relevant independent ethics committees and/or institutional review boards, and written informed consent was obtained at enrolment from either the individual or their legal guardian. The independent ethics committees and/or institutional review boards were: Landesärztekammer Rheinland-Pfalz, Mainz, Germany; South Central—Hampshire A Research Ethics Committee, Bristol, United Kingdom; Unidad de Soporte al CEIC (SCEI), Vall d’Hebron Institut de Recerca, Barcelona, Spain; Segreteria del C.E.R.U.—Comitato Etico Regionale Unico, Udine, Italy; Komisja Bioetyczna, przy Instytucie omnik-Centrum Zdrowia, Dziecka, Warszawa- Międzylesie, Poland; De Videnskabsetiske Komiteer, Hillerød, Denmark; Kantonale Ethikkommission Bern (KEK), Institut für Pathophysiologie, Bern, Switzerland.

: Not applicable.

: EM has received investigator fees and consultant honoraria from Actelion, Alexion Pharmaceuticals, Orphazyme A/S, Prevail, Sanofi Genzyme and Takeda. BB has received consultancy fees from Actelion, Sanofi Genzyme and Takeda. MDT has received consulting fees and speaker honoraria, travel expenses and congress fees from BioMarin, Sanofi Genzyme and Takeda, and is an investigator for industrial trials for Mallinckrodt Pharmaceuticals, Orphazyme A/S and Takeda. FD has received speaker honoraria from Sanofi Genzyme and Takeda, and travel reimbursement and congress fees from Actelion, Sanofi Genzyme and Takeda. MG has received investigator fees from Orphazyme A/S, consultancy fees from Sanofi Genzyme, and travel grants from Takeda. StG has participated in commercially funded research and received travel grants from Orphazyme A/S and has received consultancy fees from Moderna and Ultragenyx. SaG has received speaker honoraria from Actelion and Novo Nordisk, and travel grants from Sanofi Genzyme. BH has received consulting fees and speaker honoraria from Actelion and Takeda, travel expenses and congress fees reimbursements from Sanofi Genzyme and Takeda, and is an investigator for industrial studies and trials for Abeona Therapeutics, Lysogene, Idorsia, Mallinckrodt Pharmaceuticals and Orphazyme A/S. SS has participated in commercially funded research and has received education and travel grants from Actelion and Orphazyme A/S and has participated in commercially funded research from Mallinckrodt Pharmaceuticals. ATS has received speaker honoraria and/or travel grants from BioMarin, Chiesi, Sanofi Genzyme and Takeda. MCP has received, or will receive, research support from Actelion, Amicus, Glycomine, National Institutes of Health (NIH), Takeda and Orphazyme A/S; he served as Chair of the Scientific Advisory Committee of a Registry of Niemann–Pick disease type C, sponsored by Actelion Pharmaceuticals US, Inc (now closed), and has received consultancy fees from Amicus Therapeutics, IntraBio, Mallinckrodt Pharmaceuticals, Novartis, Orphazyme A/S, Sanofi Genzyme and Takeda; he holds stock in IntraBio. He receives a stipend as the Editor-in-Chief of the <i>Journal of Child Neurology and Child Neurology Open</i> (Sage), as an editor of the <i>Journal of Inherited Metabolic Disease</i> (JIMD) and <i>JIMD Reports</i> (SSIEM), and royalties from Up-To-Date (Section Editor for Pediatric Neurology). SD, TS and SH are paid consultants to Orphazyme A/S. NHTP, LI, CD and TK are employees and shareholders of Orphazyme A/S. CG is an employee of Orphazyme A/S. AR and EMM have nothing to disclose. EM current address: SphinCS GmbH, Hochheim, Germany.