DE69231701T2 - Säure-Sphingomyelinase-Gen und Diagnose der Niemann-Pick Krankheit - Google Patents

Säure-Sphingomyelinase-Gen und Diagnose der Niemann-Pick Krankheit

Info

Publication number
DE69231701T2
DE69231701T2 DE69231701T DE69231701T DE69231701T2 DE 69231701 T2 DE69231701 T2 DE 69231701T2 DE 69231701 T DE69231701 T DE 69231701T DE 69231701 T DE69231701 T DE 69231701T DE 69231701 T2 DE69231701 T2 DE 69231701T2
Authority
DE
Germany
Prior art keywords
niemann
diagnosis
pick disease
acid sphingomyelinase
sphingomyelinase gene
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Expired - Lifetime
Application number
DE69231701T
Other languages
English (en)
Other versions
DE69231701D1 (de
Inventor
Edward H Schuchman
Robert J Desnick
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
MOUNT SINAI MEDICAL CT NEW YOR
Mount Sinai Medical Center
Original Assignee
MOUNT SINAI MEDICAL CT NEW YOR
Mount Sinai Medical Center
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by MOUNT SINAI MEDICAL CT NEW YOR, Mount Sinai Medical Center filed Critical MOUNT SINAI MEDICAL CT NEW YOR
Publication of DE69231701D1 publication Critical patent/DE69231701D1/de
Application granted granted Critical
Publication of DE69231701T2 publication Critical patent/DE69231701T2/de
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00Rearing or breeding animals, not otherwise provided for; New breeds of animals
    • A01K67/027New breeds of vertebrates
    • A01K67/0275Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278Humanized animals, e.g. knockin
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/8509Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • C12N9/16Hydrolases (3) acting on ester bonds (3.1)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2207/00Modified animals
    • A01K2207/15Humanized animals
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals comprising random inserted nucleic acids (transgenic)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00Animals characterised by species
    • A01K2227/10Mammal
    • A01K2227/105Murine
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00Animals characterised by purpose
    • A01K2267/03Animal model, e.g. for test or diseases
    • A01K2267/0306Animal model for genetic diseases
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • YGENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10STECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00Chemistry: molecular biology and microbiology
    • Y10S435/81Packaged device or kit
DE69231701T 1991-05-03 1992-04-30 Säure-Sphingomyelinase-Gen und Diagnose der Niemann-Pick Krankheit Expired - Lifetime DE69231701T2 (de)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US07/695,472 US5773278A (en) 1991-05-03 1991-05-03 Acid sphingomyelinase gene

Publications (2)

Publication Number Publication Date
DE69231701D1 DE69231701D1 (de) 2001-04-05
DE69231701T2 true DE69231701T2 (de) 2001-09-20

Family

ID=24793124

Family Applications (1)

Application Number Title Priority Date Filing Date
DE69231701T Expired - Lifetime DE69231701T2 (de) 1991-05-03 1992-04-30 Säure-Sphingomyelinase-Gen und Diagnose der Niemann-Pick Krankheit

Country Status (4)

Country Link
US (4) US5773278A (de)
EP (1) EP0520843B1 (de)
DE (1) DE69231701T2 (de)
IL (1) IL101727A (de)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8349319B2 (en) 2009-08-28 2013-01-08 Mount Sinai School Of Medicine Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency

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AU4586096A (en) * 1995-03-10 1996-09-19 Becton Dickinson & Company Sample processing method for whole blood
DE69625678T3 (de) 1995-12-18 2006-11-09 The University Of Utah Research Foundation, Salt Lake City Chromosom 13 verbundene Brustkrebsempfindlichkeitsgen BRCA2
US6274309B1 (en) * 1996-07-26 2001-08-14 Richard Kolesnick Method for the modulation of acid-sphingomyelinase-related apoptosis
US5919687A (en) * 1996-12-24 1999-07-06 John Hopkins University Recombinant N-SMases and nucleic acids encoding same
US6426198B1 (en) 1997-07-03 2002-07-30 The United States Of America As Represented By The Secretary Of The Department Of Health And Human Services Genes for Niemann-Pick type C disease
US20040146879A1 (en) * 1998-08-31 2004-07-29 Bayer Healthcare Llc Novel human genes and gene expression products
US6262334B1 (en) * 1998-08-31 2001-07-17 Bayer Corporation Human genes and expression products: II
US7258973B2 (en) 1998-08-31 2007-08-21 Mayo Foundation For Medical Education & Research Method for detecting a differentially expressed sequence
US6642038B1 (en) * 1999-09-14 2003-11-04 Genzyme Glycobiology Research Institute, Inc. GlcNAc phosphotransferase of the lysosomal targeting pathway
US6770468B1 (en) 1999-09-14 2004-08-03 Genzyme Glycobiology Research Institute, Inc. Phosphodiester-α-GlcNAcase of the lysosomal targeting pathway
US7850984B2 (en) 2000-02-15 2010-12-14 The General Hospital Corporation Protection of the female reproductive system from natural and artificial insults
AU2001237050A1 (en) * 2000-02-17 2001-08-27 Genzyme Corporation Genetic modification of the lung as a portal for gene delivery
GB0005326D0 (en) * 2000-03-06 2000-04-26 Deutsches Krebsforsch Enzymes and uses relating thereto
US20030124652A1 (en) * 2001-12-21 2003-07-03 Novazyme Pharmaceuticals, Inc. Methods of producing high mannose glycoproteins in complex carbohydrate deficient cells
US6800472B2 (en) * 2001-12-21 2004-10-05 Genzyme Glycobiology Research Institute, Inc. Expression of lysosomal hydrolase in cells expressing pro-N-acetylglucosamine-1-phosphodiester α-N-acetyl glucosimanidase
US6905856B2 (en) 2001-12-21 2005-06-14 Genzyme Glycobiology Research Institute, Inc. Soluble GlcNAc phosphotransferase
HUE026861T2 (en) 2003-05-01 2016-07-28 Genzyme Corp Gene Therapy For Neurometabolic Disorder
WO2005016250A2 (en) * 2003-08-08 2005-02-24 Genzyme Corporation Cell therapy for neurometabolic disorders
BRPI0416434A (pt) * 2003-11-25 2007-02-21 Sinai School Medicine métodos para aumentar a atividade de uma proteìna de ácido esfingomielinase (asm), para estender a meia-vida e prolongar a atividade de uma proteìna asm purificada, para aumentar a produção de uma proteìna asm recombinante através de uma célula hospedeira, e usos de uma composição de asm tipo alelo-selvagem, purificada e um composto análogo de ceramida ou esfingomielina, e de um composto análogo de ceramida ou de esfingomielina
US8889127B2 (en) 2004-07-01 2014-11-18 Icahn School Of Medicine At Mount Sinai Targeted protein replacement for the treatment of lysosomal storage disorders
US20100028305A1 (en) * 2005-01-04 2010-02-04 Nobuko Uchida Methods for the treatment of lysosomal storage disorders
PT1879623E (pt) 2005-05-02 2012-12-20 Genzyme Corp Terapia génica para distúrbios da medula espinal
CN107007842A (zh) 2005-05-02 2017-08-04 建新公司 神经代谢疾病的基因治疗
JP5706602B2 (ja) 2006-02-08 2015-04-22 ジェンザイム・コーポレーション ニーマンピック病a型に対する遺伝子治療
GB0606190D0 (en) 2006-03-28 2006-05-10 Isis Innovation Construct
US8961962B2 (en) * 2007-01-05 2015-02-24 Mount Sinai School Of Medicine Acid ceramidase and mammalian cell survival
SI2158322T1 (sl) 2007-06-06 2017-10-30 Genzyme Corporation Genska terapija za bolezni lizosomskega shranjevanja
WO2009016652A1 (en) * 2007-07-31 2009-02-05 Bigtec Private Limited A buffer system and a method for direct pcr amplification
US8679478B2 (en) 2010-10-04 2014-03-25 Duke University Methods of lysosomal storage disease therapy
DK2753346T3 (da) 2011-09-07 2020-05-25 Sinai School Medicine Ceramidase og celledifferentiering
ES2897825T3 (es) 2012-06-01 2022-03-02 Icahn School Med Mount Sinai Niveles de ceramida en el tratamiento y prevención de infecciones
EP3659619A1 (de) 2013-03-14 2020-06-03 Icahn School of Medicine at Mount Sinai Therapeutische säure-ceramidase-zusammensetzungen und verfahren zur herstellung und verwendung davon
NZ754328A (en) 2013-06-07 2021-12-24 Genzyme Corp Marker for acid sphingomyelinase disorders and uses thereof
US20180104289A1 (en) 2015-04-08 2018-04-19 The United States Of America, As Represented By The Secretary, Department Of Health And Human Viral gene therapy as treatment for cholesterol storage disease or disorder
US10940125B2 (en) 2015-09-18 2021-03-09 Duke University Methods and compositions for the treatment of steatosis-associated disorders
CA3068010A1 (en) 2017-06-20 2018-12-27 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Codon-optimized human npc1 genes for the treatment of niemann-pick type c1 deficiency and related conditions
BR112020003541A2 (pt) 2017-08-24 2020-09-01 Sanofi tratamento de condições ósseas anormais em pacientes com deficiência de esfingomielinase ácida
UY38238A (es) 2018-05-25 2019-12-31 Genzyme Corp Composiciones farmacéuticas para el tratamiento de la deficiencia de esfingomielinasa ácida
CA3157700A1 (en) 2019-10-17 2021-04-22 Stridebio, Inc. Adeno-associated viral vectors for treatment of niemann-pick disease type c
WO2023178325A1 (en) 2022-03-18 2023-09-21 Genzyme Corporation Pharmaceutical recombinant human acid sphingomyelinase compositions and methods

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Cited By (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8349319B2 (en) 2009-08-28 2013-01-08 Mount Sinai School Of Medicine Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
US8658162B2 (en) 2009-08-28 2014-02-25 Icahn School Of Medicine At Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
US8709408B2 (en) 2009-08-28 2014-04-29 Icahn School Of Medicine At Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
US9114139B2 (en) 2009-08-28 2015-08-25 Icahn School Of Medicine At Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
US9655954B2 (en) 2009-08-28 2017-05-23 Icahn School Of Medicine At Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
US10188705B2 (en) 2009-08-28 2019-01-29 Icahn School Of Medicine At Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency

Also Published As

Publication number Publication date
US20030153739A1 (en) 2003-08-14
US5773278A (en) 1998-06-30
IL101727A (en) 2005-12-18
EP0520843A3 (en) 1993-03-31
US6541218B1 (en) 2003-04-01
EP0520843B1 (de) 2001-02-28
US5686240A (en) 1997-11-11
DE69231701D1 (de) 2001-04-05
IL101727A0 (en) 1992-12-30
EP0520843A2 (de) 1992-12-30

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