Abstract：
Acid 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.
摘要：
酸性鞘磷脂酶缺乏症（ASMD）是一种非常罕见的疾病，在各种问题上仍然存在一些知识空白，特别是在区域/国家层面。通过明确的共识方法收集的专家意见越来越多地用于在罕见/超罕见疾病的背景下提供可靠的信息。为了提供婴儿神经内脏ASMD（以前也称为A型尼曼-皮克病）的适应症，意大利的慢性神经内脏ASMD（以前称为Niemann-PickA型/B型）和慢性内脏ASMD（以前称为Niemann-PickB型），我们进行了专家的德尔菲共识,重点关注五个主要领域:(i)患者和疾病特征;(ii)未满足的需求和生活质量;(iii)诊断问题;(iv)治疗相关方面;(v)患者旅程.预先指定,客观标准被用来概述多学科小组，根据来自意大利不同地区的19名儿童和成人患者的ASMD意大利专家，包括临床医生（n=16）和ASMD患者的倡导或具有罕见疾病专业知识的付款人（n=3）。在两次德尔福回合中，在与ASMD特征相关的几个主题上发现了很高的一致性，诊断,管理和疾病负担。我们的发现可能为意大利公共卫生水平的ASMD管理提供有价值的指示。
