Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
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Published:2023-04-17
Issue:1
Volume:18
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Geberhiwot TarekegnORCID, Wasserstein Melissa, Wanninayake Subadra, Bolton Shaun Christopher, Dardis Andrea, Lehman Anna, Lidove Olivier, Dawson Charlotte, Giugliani Roberto, Imrie Jackie, Hopkin Justin, Green James, de Vicente Corbeira Daniel, Madathil Shyam, Mengel Eugen, Ezgü Fatih, Pettazzoni Magali, Sjouke Barbara, Hollak Carla, Vanier Marie T., McGovern Margaret, Schuchman Edward
Abstract
Abstract
Background
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines standard of care for ASMD patients.
Methods
The information contained in these guidelines was obtained through a systematic literature review and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research and 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 produced 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, these guidelines have identified knowledge gaps that must be filled by future research.
Conclusion
These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).
Funder
Consumers, Health and Food Executive Agency
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
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