A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia, showed that enzyme replacement lessened multiple disease-related hepatic and lipid abnormalities. Lysosomal acid lipase deficiency (Online Me...
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| Veröffentlicht in: | The New England journal of medicine 2015-09, Vol.373 (11), p.1010-1020 |
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| creator | Burton, Barbara K Balwani, Manisha Feillet, François Barić, Ivo Burrow, T. Andrew Camarena Grande, Carmen Coker, Mahmut Consuelo-Sánchez, Alejandra Deegan, Patrick Di Rocco, Maja Enns, Gregory M Erbe, Richard Ezgu, Fatih Ficicioglu, Can Furuya, Katryn N Kane, John Laukaitis, Christina Mengel, Eugen Neilan, Edward G Nightingale, Scott Peters, Heidi Scarpa, Maurizio Schwab, K. Otfried Smolka, Vratislav Valayannopoulos, Vassili Wood, Marnie Goodman, Zachary Yang, Yijun Eckert, Stephen Rojas-Caro, Sandra Quinn, Anthony G |
| description | This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia, showed that enzyme replacement lessened multiple disease-related hepatic and lipid abnormalities.
Lysosomal acid lipase deficiency (Online Mendelian Inheritance in Man number, 278000)
1
is an autosomal recessive storage disease that is caused by mutations in the
LIPA
gene.
2
In infants, progression of the disease (historically known as Wolman’s disease) is very rapid, with death typically occurring by 6 months of age.
2
In older patients, progression of the disease (historically known as cholesteryl ester storage disease) leads to cirrhosis and other complications in childhood or later in life.
3
Common features in infants, children, and adults include elevated serum aminotransferase levels, dyslipidemia, hepatomegaly, liver fibrosis, and cirrhosis.
3
–
5
Awareness of the disease is low, . . . |
| doi_str_mv | 10.1056/NEJMoa1501365 |
| format | Article |
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Lysosomal acid lipase deficiency (Online Mendelian Inheritance in Man number, 278000)
1
is an autosomal recessive storage disease that is caused by mutations in the
LIPA
gene.
2
In infants, progression of the disease (historically known as Wolman’s disease) is very rapid, with death typically occurring by 6 months of age.
2
In older patients, progression of the disease (historically known as cholesteryl ester storage disease) leads to cirrhosis and other complications in childhood or later in life.
3
Common features in infants, children, and adults include elevated serum aminotransferase levels, dyslipidemia, hepatomegaly, liver fibrosis, and cirrhosis.
3
–
5
Awareness of the disease is low, . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMoa1501365</identifier><identifier>PMID: 26352813</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Acids ; Adolescent ; Adult ; Age ; Aged ; Alanine ; Alanine transaminase ; Alanine Transaminase - blood ; Apolipoproteins ; Biopsy ; Biotechnology ; Body weight ; Child ; Child, Preschool ; Children ; Cholesterol ; Cholesterol, HDL - blood ; Cholesterol, LDL - blood ; Cirrhosis ; Double-Blind Method ; Drug therapy ; Dyslipidemia ; Dyslipidemias - drug therapy ; Dyslipidemias - genetics ; Enzymes ; Female ; Genetic disorders ; Humans ; Life Sciences ; Lipase ; Lipid metabolism ; Lipids ; Liver - drug effects ; Liver - pathology ; Liver cirrhosis ; Liver diseases ; Low density lipoprotein ; Male ; Metabolic disorders ; Middle Aged ; Patients ; Pharmacology ; Sterol Esterase - adverse effects ; Sterol Esterase - pharmacology ; Sterol Esterase - therapeutic use ; Triglycerides ; Wolman Disease ; Wolman Disease - blood ; Wolman Disease - drug therapy ; Young Adult</subject><ispartof>The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020</ispartof><rights>Copyright © 2015 Massachusetts Medical Society. All rights reserved.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c534t-61c510f4eb089fbd9b20d83f7de1a25e0dd8f82f60cc114f6cb071c22763914f3</citedby><cites>FETCH-LOGICAL-c534t-61c510f4eb089fbd9b20d83f7de1a25e0dd8f82f60cc114f6cb071c22763914f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMoa1501365$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJMoa1501365$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>230,314,776,780,881,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26352813$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.univ-lorraine.fr/hal-01667323$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Burton, Barbara K</creatorcontrib><creatorcontrib>Balwani, Manisha</creatorcontrib><creatorcontrib>Feillet, François</creatorcontrib><creatorcontrib>Barić, Ivo</creatorcontrib><creatorcontrib>Burrow, T. Andrew</creatorcontrib><creatorcontrib>Camarena Grande, Carmen</creatorcontrib><creatorcontrib>Coker, Mahmut</creatorcontrib><creatorcontrib>Consuelo-Sánchez, Alejandra</creatorcontrib><creatorcontrib>Deegan, Patrick</creatorcontrib><creatorcontrib>Di Rocco, Maja</creatorcontrib><creatorcontrib>Enns, Gregory M</creatorcontrib><creatorcontrib>Erbe, Richard</creatorcontrib><creatorcontrib>Ezgu, Fatih</creatorcontrib><creatorcontrib>Ficicioglu, Can</creatorcontrib><creatorcontrib>Furuya, Katryn N</creatorcontrib><creatorcontrib>Kane, John</creatorcontrib><creatorcontrib>Laukaitis, Christina</creatorcontrib><creatorcontrib>Mengel, Eugen</creatorcontrib><creatorcontrib>Neilan, Edward G</creatorcontrib><creatorcontrib>Nightingale, Scott</creatorcontrib><creatorcontrib>Peters, Heidi</creatorcontrib><creatorcontrib>Scarpa, Maurizio</creatorcontrib><creatorcontrib>Schwab, K. Otfried</creatorcontrib><creatorcontrib>Smolka, Vratislav</creatorcontrib><creatorcontrib>Valayannopoulos, Vassili</creatorcontrib><creatorcontrib>Wood, Marnie</creatorcontrib><creatorcontrib>Goodman, Zachary</creatorcontrib><creatorcontrib>Yang, Yijun</creatorcontrib><creatorcontrib>Eckert, Stephen</creatorcontrib><creatorcontrib>Rojas-Caro, Sandra</creatorcontrib><creatorcontrib>Quinn, Anthony G</creatorcontrib><title>A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia, showed that enzyme replacement lessened multiple disease-related hepatic and lipid abnormalities.
Lysosomal acid lipase deficiency (Online Mendelian Inheritance in Man number, 278000)
1
is an autosomal recessive storage disease that is caused by mutations in the
LIPA
gene.
2
In infants, progression of the disease (historically known as Wolman’s disease) is very rapid, with death typically occurring by 6 months of age.
2
In older patients, progression of the disease (historically known as cholesteryl ester storage disease) leads to cirrhosis and other complications in childhood or later in life.
3
Common features in infants, children, and adults include elevated serum aminotransferase levels, dyslipidemia, hepatomegaly, liver fibrosis, and cirrhosis.
3
–
5
Awareness of the disease is low, . . .</description><subject>Acids</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Alanine</subject><subject>Alanine transaminase</subject><subject>Alanine Transaminase - blood</subject><subject>Apolipoproteins</subject><subject>Biopsy</subject><subject>Biotechnology</subject><subject>Body weight</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Cholesterol</subject><subject>Cholesterol, HDL - blood</subject><subject>Cholesterol, LDL - blood</subject><subject>Cirrhosis</subject><subject>Double-Blind Method</subject><subject>Drug therapy</subject><subject>Dyslipidemia</subject><subject>Dyslipidemias - drug therapy</subject><subject>Dyslipidemias - genetics</subject><subject>Enzymes</subject><subject>Female</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Lipase</subject><subject>Lipid metabolism</subject><subject>Lipids</subject><subject>Liver - drug effects</subject><subject>Liver - pathology</subject><subject>Liver cirrhosis</subject><subject>Liver diseases</subject><subject>Low density lipoprotein</subject><subject>Male</subject><subject>Metabolic disorders</subject><subject>Middle Aged</subject><subject>Patients</subject><subject>Pharmacology</subject><subject>Sterol Esterase - adverse effects</subject><subject>Sterol Esterase - pharmacology</subject><subject>Sterol Esterase - therapeutic use</subject><subject>Triglycerides</subject><subject>Wolman Disease</subject><subject>Wolman Disease - blood</subject><subject>Wolman Disease - drug therapy</subject><subject>Young Adult</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kM1LAzEQxYMotlaPXiUgHjysZpJNdve41NYq6wdYzyGbTeiW_aibVuh_b8rWggfnMsx7Px7DQ-gSyB0QLu5fJ88vrQJOgAl-hIbAGQvCkIhjNCSExkEYJWyAzpxbEj8QJqdoQAXjNAY2RNMUvy-UM5jheVeqCrcWf5jcVOVqp6aVVbhscLZ1rWtr76e6LHDWuw_Glro0jd6eoxOrKmcu9nuEPqeT-XgWZG-PT-M0CzRn4ToQoDkQG5qcxInNiySnpIiZjQoDinJDiiK2MbWCaA0QWqFzEoGmNBIs8Tcbods-d6EquerKWnVb2apSztJM7jQCQkSMsm_w7HXPrrr2a2PcWi7bTdf49yREACRhEEaeCnpKd61znbGHWCBy17D807Dnr_apm7w2xYH-rdQDNz1Q1042Zln_E_QDqqt-Hw</recordid><startdate>20150910</startdate><enddate>20150910</enddate><creator>Burton, Barbara K</creator><creator>Balwani, Manisha</creator><creator>Feillet, François</creator><creator>Barić, Ivo</creator><creator>Burrow, T. 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Andrew ; Camarena Grande, Carmen ; Coker, Mahmut ; Consuelo-Sánchez, Alejandra ; Deegan, Patrick ; Di Rocco, Maja ; Enns, Gregory M ; Erbe, Richard ; Ezgu, Fatih ; Ficicioglu, Can ; Furuya, Katryn N ; Kane, John ; Laukaitis, Christina ; Mengel, Eugen ; Neilan, Edward G ; Nightingale, Scott ; Peters, Heidi ; Scarpa, Maurizio ; Schwab, K. Otfried ; Smolka, Vratislav ; Valayannopoulos, Vassili ; Wood, Marnie ; Goodman, Zachary ; Yang, Yijun ; Eckert, Stephen ; Rojas-Caro, Sandra ; Quinn, Anthony G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c534t-61c510f4eb089fbd9b20d83f7de1a25e0dd8f82f60cc114f6cb071c22763914f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Acids</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Aged</topic><topic>Alanine</topic><topic>Alanine transaminase</topic><topic>Alanine Transaminase - blood</topic><topic>Apolipoproteins</topic><topic>Biopsy</topic><topic>Biotechnology</topic><topic>Body weight</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Cholesterol</topic><topic>Cholesterol, HDL - blood</topic><topic>Cholesterol, LDL - blood</topic><topic>Cirrhosis</topic><topic>Double-Blind Method</topic><topic>Drug therapy</topic><topic>Dyslipidemia</topic><topic>Dyslipidemias - drug therapy</topic><topic>Dyslipidemias - genetics</topic><topic>Enzymes</topic><topic>Female</topic><topic>Genetic disorders</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Lipase</topic><topic>Lipid metabolism</topic><topic>Lipids</topic><topic>Liver - drug effects</topic><topic>Liver - pathology</topic><topic>Liver cirrhosis</topic><topic>Liver diseases</topic><topic>Low density lipoprotein</topic><topic>Male</topic><topic>Metabolic disorders</topic><topic>Middle Aged</topic><topic>Patients</topic><topic>Pharmacology</topic><topic>Sterol Esterase - adverse effects</topic><topic>Sterol Esterase - pharmacology</topic><topic>Sterol Esterase - therapeutic use</topic><topic>Triglycerides</topic><topic>Wolman Disease</topic><topic>Wolman Disease - blood</topic><topic>Wolman Disease - drug therapy</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Burton, Barbara K</creatorcontrib><creatorcontrib>Balwani, Manisha</creatorcontrib><creatorcontrib>Feillet, François</creatorcontrib><creatorcontrib>Barić, Ivo</creatorcontrib><creatorcontrib>Burrow, T. 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Andrew</au><au>Camarena Grande, Carmen</au><au>Coker, Mahmut</au><au>Consuelo-Sánchez, Alejandra</au><au>Deegan, Patrick</au><au>Di Rocco, Maja</au><au>Enns, Gregory M</au><au>Erbe, Richard</au><au>Ezgu, Fatih</au><au>Ficicioglu, Can</au><au>Furuya, Katryn N</au><au>Kane, John</au><au>Laukaitis, Christina</au><au>Mengel, Eugen</au><au>Neilan, Edward G</au><au>Nightingale, Scott</au><au>Peters, Heidi</au><au>Scarpa, Maurizio</au><au>Schwab, K. Otfried</au><au>Smolka, Vratislav</au><au>Valayannopoulos, Vassili</au><au>Wood, Marnie</au><au>Goodman, Zachary</au><au>Yang, Yijun</au><au>Eckert, Stephen</au><au>Rojas-Caro, Sandra</au><au>Quinn, Anthony G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2015-09-10</date><risdate>2015</risdate><volume>373</volume><issue>11</issue><spage>1010</spage><epage>1020</epage><pages>1010-1020</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>This phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, which causes cirrhosis and severe dyslipidemia, showed that enzyme replacement lessened multiple disease-related hepatic and lipid abnormalities.
Lysosomal acid lipase deficiency (Online Mendelian Inheritance in Man number, 278000)
1
is an autosomal recessive storage disease that is caused by mutations in the
LIPA
gene.
2
In infants, progression of the disease (historically known as Wolman’s disease) is very rapid, with death typically occurring by 6 months of age.
2
In older patients, progression of the disease (historically known as cholesteryl ester storage disease) leads to cirrhosis and other complications in childhood or later in life.
3
Common features in infants, children, and adults include elevated serum aminotransferase levels, dyslipidemia, hepatomegaly, liver fibrosis, and cirrhosis.
3
–
5
Awareness of the disease is low, . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>26352813</pmid><doi>10.1056/NEJMoa1501365</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020 |
| issn | 0028-4793 1533-4406 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_01667323v1 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; New England Journal of Medicine |
| subjects | Acids Adolescent Adult Age Aged Alanine Alanine transaminase Alanine Transaminase - blood Apolipoproteins Biopsy Biotechnology Body weight Child Child, Preschool Children Cholesterol Cholesterol, HDL - blood Cholesterol, LDL - blood Cirrhosis Double-Blind Method Drug therapy Dyslipidemia Dyslipidemias - drug therapy Dyslipidemias - genetics Enzymes Female Genetic disorders Humans Life Sciences Lipase Lipid metabolism Lipids Liver - drug effects Liver - pathology Liver cirrhosis Liver diseases Low density lipoprotein Male Metabolic disorders Middle Aged Patients Pharmacology Sterol Esterase - adverse effects Sterol Esterase - pharmacology Sterol Esterase - therapeutic use Triglycerides Wolman Disease Wolman Disease - blood Wolman Disease - drug therapy Young Adult |
| title | A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-30T16%3A34%3A16IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_hal_p&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Phase%203%20Trial%20of%20Sebelipase%20Alfa%20in%20Lysosomal%20Acid%20Lipase%20Deficiency&rft.jtitle=The%20New%20England%20journal%20of%20medicine&rft.au=Burton,%20Barbara%20K&rft.date=2015-09-10&rft.volume=373&rft.issue=11&rft.spage=1010&rft.epage=1020&rft.pages=1010-1020&rft.issn=0028-4793&rft.eissn=1533-4406&rft_id=info:doi/10.1056/NEJMoa1501365&rft_dat=%3Cproquest_hal_p%3E3803900281%3C/proquest_hal_p%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1711093147&rft_id=info:pmid/26352813&rfr_iscdi=true |