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Chronic neurovisceral acid sphingomyelinase deficiency

MedGen UID:
1842316
•Concept ID:
C5539139
•
Disease or Syndrome
Synonyms: chronic neurovisceral acid sphingomyelinase deficiency; Chronic neurovisceral ASMD; Niemann-Pick disease type A/B; NPD-A/B
 
Monarch Initiative: MONDO:0850058
Orphanet: ORPHA618891

Professional guidelines

PubMed

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
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, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E
Orphanet J Rare Dis 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. PMID: 37069638Free PMC Article
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP
Genet Med 2017 Sep;19(9):967-974. Epub 2017 Apr 13 doi: 10.1038/gim.2017.7. PMID: 28406489Free PMC Article

Recent clinical studies

Etiology

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M
Mol Genet Metab 2020 Sep-Oct;131(1-2):116-123. Epub 2020 Jun 24 doi: 10.1016/j.ymgme.2020.06.008. PMID: 32616389
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A
Orphanet J Rare Dis 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. PMID: 30795770Free PMC Article
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M
Mol Genet Metab 2019 Feb;126(2):98-105. Epub 2018 Nov 29 doi: 10.1016/j.ymgme.2018.11.014. PMID: 30514648Free PMC Article
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF
Mol Genet Metab 2016 Jul;118(3):206-213. Epub 2016 May 11 doi: 10.1016/j.ymgme.2016.05.001. PMID: 27198631

Diagnosis

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
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, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E
Orphanet J Rare Dis 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. PMID: 37069638Free PMC Article
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD
Intern Emerg Med 2023 Apr;18(3):831-842. Epub 2023 Mar 7 doi: 10.1007/s11739-023-03238-3. PMID: 36882619
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M
Mol Genet Metab 2019 Feb;126(2):98-105. Epub 2018 Nov 29 doi: 10.1016/j.ymgme.2018.11.014. PMID: 30514648Free PMC Article
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP
Genet Med 2017 Sep;19(9):967-974. Epub 2017 Apr 13 doi: 10.1038/gim.2017.7. PMID: 28406489Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M
Mol Genet Metab 2019 Feb;126(2):98-105. Epub 2018 Nov 29 doi: 10.1016/j.ymgme.2018.11.014. PMID: 30514648Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM
Mol Genet Metab 2020 May;130(1):16-26. Epub 2020 Feb 12 doi: 10.1016/j.ymgme.2020.02.002. PMID: 32088119
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A
Orphanet J Rare Dis 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. PMID: 30795770Free PMC Article
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF
Mol Genet Metab 2016 Jul;118(3):206-213. Epub 2016 May 11 doi: 10.1016/j.ymgme.2016.05.001. PMID: 27198631
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F
Brain 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26 doi: 10.1093/brain/awl260. PMID: 17003072

Clinical prediction guides

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M
Mol Genet Metab 2020 Sep-Oct;131(1-2):116-123. Epub 2020 Jun 24 doi: 10.1016/j.ymgme.2020.06.008. PMID: 32616389
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM
Mol Genet Metab 2020 May;130(1):16-26. Epub 2020 Feb 12 doi: 10.1016/j.ymgme.2020.02.002. PMID: 32088119
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A
Orphanet J Rare Dis 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. PMID: 30795770Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F
Brain 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26 doi: 10.1093/brain/awl260. PMID: 17003072

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