• Maurizio Scarpa, Antonio Barbato, Annalisa Bisconti, Alberto Burlina, Daniela Concolino, Federica Deodato, Maja Di Rocco, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Agata Fiumara, Carlotta Galeone, Fiorina Giona, Gaetano Giuffrida, Raffaele Manna, Paolo Mariani, Andrea Pession, Annalisa Scopinaro, Marco Spada, Federico Spandonaro, Gianluca Trifirò, Francesca Carubbi, and Maria Domenica Cappellini.
• Regional Coordinator Centre for Rare Diseases, Azienda Ospedaliero-Universitaria "Santa Maria Della Misericordia", University Hospital of Udine, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy. maurizio.scarpa@asufc.sanita.fvg.it.
• Intern Emerg Med. 2023 Apr 1; 18 (3): 831842831-842.

AbstractAcid sphingomyelinase deficiency (ASMD) is an ultra-rare disease, and several gaps of knowledge on various issues remain, particularly at a regional/national level. Expert opinions collected through well-defined consensus methodologies are increasingly used to make available reliable information in the context of rare/ultra-rare diseases. With the aim to provide indications on infantile neurovisceral ASMD (also formerly known as Niemann-Pick disease type A), chronic neurovisceral ASMD (formerly known as Niemann-Pick disease type A/B) and chronic visceral ASMD (formerly known as Niemann-Pick disease type B) in Italy, we conducted a Delphi consensus of experts focused on five main areas: (i) patients and disease characteristics; (ii) unmet needs and quality of life; (iii) diagnostic issues; (iv) treatment-related aspects; and (v) patient journey. Pre-specified, objective criteria were used to outline the multidisciplinary panel, based on 19 Italian experts in ASMD in paediatric and adult patients from different Italian Regions, including both clinicians (n = 16) and ASMD patients' advocacy or payors with expertise in rare diseases (n = 3). During two Delphi rounds, a high ratio of agreement was found on several topics related to ASMD characteristics, diagnosis, management and disease burden. Our findings may provide valuable indications for management of ASMD at a public health level in Italy.© 2023. The Author(s), under exclusive licence to Società Italiana di Medicina Interna (SIMI).

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