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Article History

Received: 7 June 2025

Accepted: 16 October 2025

First Online: 21 November 2025

Declarations

:

: All procedures followed were in accordance with the ethical standards of the committee responsible for human experimentation (institutional and national). This study was conducted in accordance with the Declaration of Helsinki of 1975, as revised in 2000, and Good Pharmacoepidemiology Practices (GPPs). The study protocols and questionnaire were approved by the Ethical Review Board of the local committee at all participating sites. Written informed consent was obtained from all individual participants included in the study. Eligibility of the participants was at the discretion of the physician and based on standard treatment options as determined by the Italian regulations (including AIFA authorization 341/2020 for Pompe disease patients and MPS-I patients). Dosage and dosage regimen were in accordance with the Summary of Product Characteristics (SmPC).

: Not applicable.

: This article does not contain any studies with animal subjects performed by any of the authors.

: MS, EV, GC, RT, SG, RF, and VC have no conflict of interest to declare. AF received support from Sanofi and PIAM for meetings/travelling and was part of a Data Safety Monitoring Board or Advisory Board for Sanofi. LM received grants or contracts from Biogen, Alexion/Astrazeneca for fellowship; payment or honoraria for lectures, presentations, manuscript writing or educational events from Biogen, Alexion, Argenx, UCB, Johnson and Johnson, Lupin Therapeutics, Roche, Sanofi, and Amicus therapeutics; and support for attending meetings and/or travel from Biogen, Alexion, Argenx, UCB, Roche, and Sanofi. OM received support for attending meetings and/or travel from Sanofi; and was part of a Data Safety Monitoring Board or Advisory Board for Sanofi and Amicus therapeutics. SR was part of a Data Safety Monitoring Board or Advisory Board for Sanofi and Amicus. AT received payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events, as well as support for attending meetings and/or travel, from Sanofi, Amicus, and Astellas. RB received consulting fees from Glycomine; support for attending meetings and/or travel from Sanofi; and leadership or fiduciary role in other board, society, committee or advocacy group (unpaid) for SIMMESN, AIMPS, and CDG-Italia. AS received payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Sanofi Genzyme, Amicus, Takeda-Shire; Support for attending meetings and/or travel from Sanofi Genzyme, Amicus, Takeda-Shire. FB received support for attending meetings and/or travel from Sanofi, Alnylam, and Roche. GS received grants or contracts from Sanofi, Roche, Italfarmaco; payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events from Biogen, Johnson and Johnson, Lupin Therapeutics, Roche, Sanofi, Amicus therapeutics, Zambon, Takeda, CSL; support for attending meetings and/or travel from Biogen, Alexion, Argenx, Roche, Sanofi. AC received support from Sanofi for attending meetings and/or travel. MB received payment or honoraria from Sanofi for lectures, presentations, speakers bureaus, manuscript writing or educational events; Support for attending meetings and/or travel from Sanofi and Takeda Shire. RP received support for attending meetings from Sanofi and Orchard Therapeutics.