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Article History

Received: 17 January 2025

Accepted: 23 May 2025

First Online: 9 July 2025

Declarations

:

: The child was treated according to the technical schedule of Lumasiran (Oxlumo) approved by the Italian Medicines Agency (AIFA; deliberation 237/2022 published on GU 4th April, 2022) for use at any age. The local Ethics Committee approved the study protocol, including data and biological sampling collection (Protocol number 0066621, May 29th 2023).

: Informed consent to publish was obtained from the parents of the patient.

: LP and ML received speakers’ unconditional fees from Alnylam Pharmaceuticals in educational courses in 2022 and 2023. VHM, RC, FM, BG, MP and the Pediatric Oxal Turin Working Group have indicated they have no conflicts of interest relevant to this article to disclose.

: Clinical data are available upon detailed request.

: There was no explicit funding for the development of this work.

: Dr Licia Peruzzi managed all the clinical steps, took the responsibility for the therapeutic choices, conceptualized and designed the study, drafted the initial manuscript, and critically reviewed and revised the manuscript. Dr Vitor Hugo Martins, Dr Roberta Camilla, Dr Francesca Mattozzi and Dr Bruno Gianoglio designed the data collection instruments, collected data and critically reviewed and revised the manuscript. Dr Marta Leporati, Dr Michele Petrarulo carried out the biochemical analyses, designed the data collection, collected data and critically reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work. All the members of the Pediatric Oxal Turin Working Group were responsible for specific clinical and diagnostic aspects, data collection and discussion and critically discussed and approved the revised the manuscript.