Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)

Abstract

AbstractBackground:Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations inSMPD1gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There is no published national or international guideline for diagnosis and management of patients with ASMD. For these reasons, we at INPDR have developed a clinical guideline that define standard of care for ASMD patientsMethods:The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process.Results:The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We made 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, this guideline has identified gaps in the knowledge that must be filled by future research.Conclusion:This guideline can inform care providers, care funders, patients and their carers about best clinical practice and lead to a step change in the quality of care for patients with ASMD.