TY - JOUR
T1 - Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
AU - McGovern, Margaret M.
AU - Dionisi-Vici, Carlo
AU - Giugliani, Roberto
AU - Hwu, Paul
AU - Lidove, Olivier
AU - Lukacs, Zoltan
AU - Eugen Mengel, Karl
AU - Mistry, Pramod K.
AU - Schuchman, Edward H.
AU - Wasserstein, Melissa P.
N1 - Funding Information:
C.D-V. has received research grants, investigator fees, speaker honoraria, and reimbursement of travel expenses to attend scientific meetings from Sanofi Genzyme. E.H.S. is an inventor of several patents that have been licensed by Mount Sinai to Sanofi Genzyme for the treatment and diagnosis of ASMD. He is also a consultant for Sanofi Genzyme and receives a research grant for the study of ASMD. K.E.M. has received investigator fees, speaker honoraria, and reimbursement of travel expenses from Sanofi Genzyme to attend scientific meetings. M.P.W. has received travel grants, honoraria, and investigator fees from Sanofi Genzyme. O.L. has received travel grants and speaker honoraria from Sanofi Genzyme. P.K.M. has received research grants and lecture honoraria from Sanofi Gen-zyme. R.G. has received investigator fees, speaker honoraria, and reimbursement of travel expenses from Sanofi Genzyme to attend scientific meetings. Z.L. has received travel grants, honoraria, and research grants from Sanofi Genzyme. P.H. and M.M.M. have no conflicts of interest.
Funding Information:
Sanofi Genzyme provided support, including an honorarium for the authors to meet and develop the consensus document. The opinions represent those of the authors based on their clinical expertise and experience and do not reflect those of Sanofi Genzyme. Manuscript preparation and editing were provided by Patrice C. Ferriola and were funded by Sanofi Genzyme
PY - 2017/9/1
Y1 - 2017/9/1
N2 - Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases.Background:Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement.Purpose and methods:An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes.Conclusions:Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD.
AB - Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases.Background:Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement.Purpose and methods:An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes.Conclusions:Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD.
KW - Niemann-Pick disease types A and B
KW - acid sphingomyelin deficiency
KW - lysosomal storage disorder
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U2 - 10.1038/gim.2017.7
DO - 10.1038/gim.2017.7
M3 - Article
C2 - 28406489
AN - SCOPUS:85013775293
VL - 19
SP - 967
EP - 974
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 9
ER -