Orphanet Journal of Rare Diseases · 22 authors, 18 centres
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This paper presents the first international consensus guidelines for diagnosing and managing Acid Sphingomyelinase Deficiency (ASMD), developed via a systematic review and expert consensus. The guidelines produce 39 evidence-graded statements to standardize care for patients with this rare disorder.
The guidelines were developed by a multidisciplinary group using a systematic literature review and the AGREE II framework, adapted for an ultra-rare disease. The process involved expert consensus via the Delphi method, resulting in 39 clinical statements graded by evidence level and strength of recommendation. The guidelines cover the clinical spectrum of ASMD, from fatal infantile forms to adult-onset disease, providing recommendations on diagnosis, monitoring, and management, including the use of enzyme replacement therapy (ERT). They define a standard of care to improve patient outcomes and address knowledge gaps for future research. The development acknowledges limitations, including the difficulty of applying standard methodology to a rare disease and a reliance on observational data and expert opinion for many recommendations.
