Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The most abundant species in this class of lipid, N-palmitoyl-O-phosphocho...
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| Veröffentlicht in: | Molecular genetics and metabolism 2020-04, Vol.129 (4), p.292-302 |
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| creator | Sidhu, Rohini Kell, Pamela Dietzen, Dennis J. Farhat, Nicole Y. Do, An Ngoc Dang Porter, Forbes D. Berry-Kravis, Elizabeth Vite, Charles H. Reunert, Janine Marquardt, Thorsten Giugliani, Roberto Lourenço, Charles M. Bodamer, Olaf Wang, Raymond Y. Plummer, Ellen Schaffer, Jean E. Ory, Daniel S. Jiang, Xuntian |
| description | Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The most abundant species in this class of lipid, N-palmitoyl-O-phosphocholineserine (PPCS), was evaluated for diagnosis of NPC disease and treatment efficacy assessment with 2-hydroxypropyl-β-cyclodextrin (HPβCD) in NPC. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods were developed and validated to measure PPCS in human plasma and cerebrospinal fluid (CSF). A cutoff of 248 ng/mL in plasma provided a sensitivity of 100.0% and specificity of 96.6% in identifying NPC1 patients from control and NPC1 carrier subjects. PPCS was significantly elevated in CSF from NPC1 patients, and CSF PPCS levels were significantly correlated with NPC neurological disease severity scores. Plasma and CSF PPCS did not change significantly in response to intrathetical (IT) HPβCD treatment. In an intravenous (IV) HPβCD trial, plasma PPCS in all patients was significantly reduced. These results demonstrate that plasma PPCS was able to diagnose NPC1 patients with high sensitivity and specificity, and to evaluate the peripheral treatment efficacy of IV HPβCD treatment. |
| doi_str_mv | 10.1016/j.ymgme.2020.01.007 |
| format | Article |
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A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The most abundant species in this class of lipid, N-palmitoyl-O-phosphocholineserine (PPCS), was evaluated for diagnosis of NPC disease and treatment efficacy assessment with 2-hydroxypropyl-β-cyclodextrin (HPβCD) in NPC. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods were developed and validated to measure PPCS in human plasma and cerebrospinal fluid (CSF). A cutoff of 248 ng/mL in plasma provided a sensitivity of 100.0% and specificity of 96.6% in identifying NPC1 patients from control and NPC1 carrier subjects. PPCS was significantly elevated in CSF from NPC1 patients, and CSF PPCS levels were significantly correlated with NPC neurological disease severity scores. Plasma and CSF PPCS did not change significantly in response to intrathetical (IT) HPβCD treatment. In an intravenous (IV) HPβCD trial, plasma PPCS in all patients was significantly reduced. These results demonstrate that plasma PPCS was able to diagnose NPC1 patients with high sensitivity and specificity, and to evaluate the peripheral treatment efficacy of IV HPβCD treatment.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2020.01.007</identifier><identifier>PMID: 32033912</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>2-Hydroxypropyl-beta-cyclodextrin - therapeutic use ; 2-Hydroxypropyl-β-cyclodextrin ; Adolescent ; Adult ; Aged ; Animals ; Biomarkers - blood ; Biomarkers - cerebrospinal fluid ; Cats ; Child ; Child, Preschool ; Chromatography, Liquid ; Diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; LysoSM-509 ; Male ; Middle Aged ; N-palmitoyl-O-phosphocholineserine ; Niemann-Pick disease type C ; Niemann-Pick Disease, Type C - diagnosis ; Niemann-Pick Disease, Type C - drug therapy ; Phosphorylcholine - blood ; Phosphorylcholine - cerebrospinal fluid ; Sensitivity and Specificity ; Severity of Illness Index ; Tandem Mass Spectrometry ; Treatment assessment ; Treatment Outcome ; Young Adult</subject><ispartof>Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302</ispartof><rights>2020 Elsevier Inc.</rights><rights>Copyright © 2020 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c525t-a20730417642d415095cf86863538af029d76799fbca7543801903872d903bf93</citedby><cites>FETCH-LOGICAL-c525t-a20730417642d415095cf86863538af029d76799fbca7543801903872d903bf93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ymgme.2020.01.007$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,777,781,882,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32033912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sidhu, Rohini</creatorcontrib><creatorcontrib>Kell, Pamela</creatorcontrib><creatorcontrib>Dietzen, Dennis J.</creatorcontrib><creatorcontrib>Farhat, Nicole Y.</creatorcontrib><creatorcontrib>Do, An Ngoc Dang</creatorcontrib><creatorcontrib>Porter, Forbes D.</creatorcontrib><creatorcontrib>Berry-Kravis, Elizabeth</creatorcontrib><creatorcontrib>Vite, Charles H.</creatorcontrib><creatorcontrib>Reunert, Janine</creatorcontrib><creatorcontrib>Marquardt, Thorsten</creatorcontrib><creatorcontrib>Giugliani, Roberto</creatorcontrib><creatorcontrib>Lourenço, Charles M.</creatorcontrib><creatorcontrib>Bodamer, Olaf</creatorcontrib><creatorcontrib>Wang, Raymond Y.</creatorcontrib><creatorcontrib>Plummer, Ellen</creatorcontrib><creatorcontrib>Schaffer, Jean E.</creatorcontrib><creatorcontrib>Ory, Daniel S.</creatorcontrib><creatorcontrib>Jiang, Xuntian</creatorcontrib><title>Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. 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Kell, Pamela ; Dietzen, Dennis J. ; Farhat, Nicole Y. ; Do, An Ngoc Dang ; Porter, Forbes D. ; Berry-Kravis, Elizabeth ; Vite, Charles H. ; Reunert, Janine ; Marquardt, Thorsten ; Giugliani, Roberto ; Lourenço, Charles M. ; Bodamer, Olaf ; Wang, Raymond Y. ; Plummer, Ellen ; Schaffer, Jean E. ; Ory, Daniel S. ; Jiang, Xuntian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c525t-a20730417642d415095cf86863538af029d76799fbca7543801903872d903bf93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>2-Hydroxypropyl-beta-cyclodextrin - therapeutic use</topic><topic>2-Hydroxypropyl-β-cyclodextrin</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Animals</topic><topic>Biomarkers - blood</topic><topic>Biomarkers - cerebrospinal fluid</topic><topic>Cats</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromatography, Liquid</topic><topic>Diagnosis</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>LysoSM-509</topic><topic>Male</topic><topic>Middle Aged</topic><topic>N-palmitoyl-O-phosphocholineserine</topic><topic>Niemann-Pick disease type C</topic><topic>Niemann-Pick Disease, Type C - diagnosis</topic><topic>Niemann-Pick Disease, Type C - drug therapy</topic><topic>Phosphorylcholine - blood</topic><topic>Phosphorylcholine - cerebrospinal fluid</topic><topic>Sensitivity and Specificity</topic><topic>Severity of Illness Index</topic><topic>Tandem Mass Spectrometry</topic><topic>Treatment assessment</topic><topic>Treatment Outcome</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sidhu, Rohini</creatorcontrib><creatorcontrib>Kell, Pamela</creatorcontrib><creatorcontrib>Dietzen, Dennis J.</creatorcontrib><creatorcontrib>Farhat, Nicole Y.</creatorcontrib><creatorcontrib>Do, An Ngoc Dang</creatorcontrib><creatorcontrib>Porter, Forbes D.</creatorcontrib><creatorcontrib>Berry-Kravis, Elizabeth</creatorcontrib><creatorcontrib>Vite, Charles H.</creatorcontrib><creatorcontrib>Reunert, Janine</creatorcontrib><creatorcontrib>Marquardt, Thorsten</creatorcontrib><creatorcontrib>Giugliani, Roberto</creatorcontrib><creatorcontrib>Lourenço, Charles M.</creatorcontrib><creatorcontrib>Bodamer, Olaf</creatorcontrib><creatorcontrib>Wang, Raymond Y.</creatorcontrib><creatorcontrib>Plummer, Ellen</creatorcontrib><creatorcontrib>Schaffer, Jean E.</creatorcontrib><creatorcontrib>Ory, Daniel S.</creatorcontrib><creatorcontrib>Jiang, Xuntian</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sidhu, Rohini</au><au>Kell, Pamela</au><au>Dietzen, Dennis J.</au><au>Farhat, Nicole Y.</au><au>Do, An Ngoc Dang</au><au>Porter, Forbes D.</au><au>Berry-Kravis, Elizabeth</au><au>Vite, Charles H.</au><au>Reunert, Janine</au><au>Marquardt, Thorsten</au><au>Giugliani, Roberto</au><au>Lourenço, Charles M.</au><au>Bodamer, Olaf</au><au>Wang, Raymond Y.</au><au>Plummer, Ellen</au><au>Schaffer, Jean E.</au><au>Ory, Daniel S.</au><au>Jiang, Xuntian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2020-04-01</date><risdate>2020</risdate><volume>129</volume><issue>4</issue><spage>292</spage><epage>302</epage><pages>292-302</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder caused by mutations in either the NPC1 or the NPC2 gene. A new class of lipids, N-acyl-O-phosphocholineserines were recently identified as NPC biomarkers. The most abundant species in this class of lipid, N-palmitoyl-O-phosphocholineserine (PPCS), was evaluated for diagnosis of NPC disease and treatment efficacy assessment with 2-hydroxypropyl-β-cyclodextrin (HPβCD) in NPC. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods were developed and validated to measure PPCS in human plasma and cerebrospinal fluid (CSF). A cutoff of 248 ng/mL in plasma provided a sensitivity of 100.0% and specificity of 96.6% in identifying NPC1 patients from control and NPC1 carrier subjects. PPCS was significantly elevated in CSF from NPC1 patients, and CSF PPCS levels were significantly correlated with NPC neurological disease severity scores. Plasma and CSF PPCS did not change significantly in response to intrathetical (IT) HPβCD treatment. In an intravenous (IV) HPβCD trial, plasma PPCS in all patients was significantly reduced. These results demonstrate that plasma PPCS was able to diagnose NPC1 patients with high sensitivity and specificity, and to evaluate the peripheral treatment efficacy of IV HPβCD treatment.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>32033912</pmid><doi>10.1016/j.ymgme.2020.01.007</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | 2-Hydroxypropyl-beta-cyclodextrin - therapeutic use 2-Hydroxypropyl-β-cyclodextrin Adolescent Adult Aged Animals Biomarkers - blood Biomarkers - cerebrospinal fluid Cats Child Child, Preschool Chromatography, Liquid Diagnosis Female Humans Infant Infant, Newborn LysoSM-509 Male Middle Aged N-palmitoyl-O-phosphocholineserine Niemann-Pick disease type C Niemann-Pick Disease, Type C - diagnosis Niemann-Pick Disease, Type C - drug therapy Phosphorylcholine - blood Phosphorylcholine - cerebrospinal fluid Sensitivity and Specificity Severity of Illness Index Tandem Mass Spectrometry Treatment assessment Treatment Outcome Young Adult |
| title | Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease |
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