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.<br />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.<br />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.<br />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).<br /> (© 2023. The Author(s).)
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{"article_title":"Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A\/B).","author":"Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezg\u00fc F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E","journal_title":"Orphanet journal of rare diseases","issn":"1750-1172","isbn":"","publication_date":"2023-04-17","volume":"18","issue":"1","first_page":"85","page_count":"","accession_number":"37069638","doi":"","publisher":"BioMed Central","doctype":"Journal Article","subjects":"Niemann-Pick Disease, Type A genetics; Niemann-Pick Diseases; Adult; Humans; Consensus; Mutation; Sphingomyelin Phosphodiesterase genetics; Systematic Reviews as Topic","interest_area":["Allergy Immunology & Inflammation"],"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). \u00a9 2023. The Author(s).","url":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&db=mdl&AN=37069638","isPdfLink":true,"isSAML":false,"an":"37069638","number_other":"","type_pub":"","issn_electronic":"1750-1172","languages":"English","language":"eng","date_entry":"","date_update":"","titleSource":"Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.","date_pub_cy":"","type_document":"","contract_publisher":"","authored_on":"2023-04-17","description":"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.<br \/>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.<br \/>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.<br \/>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).<br \/> (© 2023. The Author(s).)","upload_link":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&site=eds-live&db=mdl&AN=37069638&authtype=shib&custid=ns346513&group=main&profile=eds","no_of_pages":"","authored_by":"Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezg\u00fc F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E","header":{"DbId":"mdl","DbLabel":"MEDLINE Ultimate","An":"37069638","RelevancyScore":"957","PubType":"Academic Journal","PubTypeId":"academicJournal","PreciseRelevancyScore":"957.384887695313"},"plink":"https:\/\/search.ebscohost.com\/login.aspx?direct=true&site=eds-live&db=mdl&AN=37069638&authtype=shib&custid=ns346513&group=main&profile=eds","physicalDescription":{"Pagination":{"StartPage":"85"}},"additionalInfo":{"Authored_By":"Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezg\u00fc F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E","Journal_Info":"Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE","Publication_Type":"Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't","Published_Date":"2023-04-17","Source":"Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.","Languages":"English","Electronic_ISSN":"1750-1172","MeSH_Terms":"Niemann-Pick Disease, Type A*\/genetics , Niemann-Pick Diseases*, Adult ; Humans ; Consensus ; Mutation ; Sphingomyelin Phosphodiesterase\/genetics ; Systematic Reviews as Topic","Subjects":"Adult, Humans, Consensus, Mutation, Sphingomyelin Phosphodiesterase genetics, Systematic Reviews as Topic, Niemann-Pick Disease, Type A genetics, Niemann-Pick Diseases","Title_Abbreviations":"Orphanet journal of rare diseases","Volume":"18"}}
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["Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezg\u00fc F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E","Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE","Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't","2023-04-17","Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Apr 17; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2023 Apr 17.","English","1750-1172","Niemann-Pick Disease, Type A*\/genetics , Niemann-Pick Diseases*, Adult ; Humans ; Consensus ; Mutation ; Sphingomyelin Phosphodiesterase\/genetics ; Systematic Reviews as Topic","Adult, Humans, Consensus, Mutation, Sphingomyelin Phosphodiesterase genetics, Systematic Reviews as Topic, Niemann-Pick Disease, Type A genetics, Niemann-Pick Diseases","Orphanet journal of rare diseases","18"]
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