WO2002006529A3 - Detection and treatment of polycystic kidney disease - Google Patents

Detection and treatment of polycystic kidney disease Download PDF

Info

Publication number
WO2002006529A3
WO2002006529A3 PCT/US2001/022035 US0122035W WO0206529A3 WO 2002006529 A3 WO2002006529 A3 WO 2002006529A3 US 0122035 W US0122035 W US 0122035W WO 0206529 A3 WO0206529 A3 WO 0206529A3
Authority
WO
WIPO (PCT)
Prior art keywords
kidney disease
polycystic kidney
detection
treatment
methods
Prior art date
Application number
PCT/US2001/022035
Other languages
French (fr)
Other versions
WO2002006529A2 (en
Inventor
Gregory G Germino
Terry J Watnick
Bunyong Phakdeekitcharoen
Original Assignee
Univ Johns Hopkins Med
Gregory G Germino
Terry J Watnick
Bunyong Phakdeekitcharoen
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 Univ Johns Hopkins Med, Gregory G Germino, Terry J Watnick, Bunyong Phakdeekitcharoen filed Critical Univ Johns Hopkins Med
Priority to CA2395781A priority Critical patent/CA2395781C/en
Priority to JP2002512419A priority patent/JP2004504038A/en
Priority to AU2001271998A priority patent/AU2001271998A1/en
Publication of WO2002006529A2 publication Critical patent/WO2002006529A2/en
Publication of WO2002006529A3 publication Critical patent/WO2002006529A3/en

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P13/00—Drugs for disorders of the urinary system
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Abstract

Compositions useful for examining the PKD1 gene are provided. In addition, methods for detecting mutations of the PKD1 gene, which can be associated with autosomal dominant polycystic kidney disease in humans, are provided. Methods for diagnosing a mutant PKD1 gene sequence in a subject also are provided, as are methods of treating a subject having a PKD1-associated disorder.
PCT/US2001/022035 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease WO2002006529A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
CA2395781A CA2395781C (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease
JP2002512419A JP2004504038A (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease
AU2001271998A AU2001271998A1 (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US21826100P 2000-07-13 2000-07-13
US60/218,261 2000-07-13
US28369101P 2001-04-13 2001-04-13
US60/283,691 2001-04-13

Publications (2)

Publication Number Publication Date
WO2002006529A2 WO2002006529A2 (en) 2002-01-24
WO2002006529A3 true WO2002006529A3 (en) 2003-06-26

Family

ID=26912733

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/022035 WO2002006529A2 (en) 2000-07-13 2001-07-13 Detection and treatment of polycystic kidney disease

Country Status (5)

Country Link
US (4) US7553644B2 (en)
JP (2) JP2004504038A (en)
AU (1) AU2001271998A1 (en)
CA (2) CA2395781C (en)
WO (1) WO2002006529A2 (en)

Families Citing this family (36)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2004504038A (en) * 2000-07-13 2004-02-12 ザ　ジョンズ　ホプキンス　ユニバーシティー　スクール　オブ　メディシン Detection and treatment of polycystic kidney disease
US7273701B2 (en) 2001-10-12 2007-09-25 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
US6916619B2 (en) 2001-10-12 2005-07-12 Athena Diagnostics, Inc. Compositions and methods for genetic analysis of polycystic kidney disease
GB0215509D0 (en) * 2002-07-04 2002-08-14 Novartis Ag Marker genes
US20050090001A1 (en) * 2003-10-07 2005-04-28 Parker Stephen H. Cell lines and methods for producing proteins
US7141376B2 (en) * 2004-05-28 2006-11-28 Lyons Leslie A Carrier tests for polycystic kidney disease in the cat
GB0523659D0 (en) * 2005-11-21 2005-12-28 Novartis Ag Organic compounds
WO2008094194A2 (en) * 2006-07-24 2008-08-07 Athena Diagnostics, Inc. Pkd mutations and evaluation of same
CN101668732A (en) * 2007-04-02 2010-03-10 同一世界健康研究院 CFTR inhibitor compound and uses thereof
US8207205B2 (en) 2008-04-21 2012-06-26 Institute For Oneworld Health Compounds, compositions and methods comprising oxadiazole derivatives
US8236838B2 (en) * 2008-04-21 2012-08-07 Institute For Oneworld Health Compounds, compositions and methods comprising isoxazole derivatives
US20090270398A1 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, Compositions and Methods Comprising Pyridazine Derivatives
WO2009131958A2 (en) * 2008-04-21 2009-10-29 Institute For Oneworld Health Compounds, compositions and methods comprising triazine derivatives
US20110237528A1 (en) * 2008-09-19 2011-09-29 Institute For Oneworld Health Compositions and methods comprising imidazole and triazole derivatives
US8511216B2 (en) * 2009-03-30 2013-08-20 Kanzaki Kokyukoki Mfg. Co., Ltd. Hydraulic actuator unit
US8343976B2 (en) * 2009-04-20 2013-01-01 Institute For Oneworld Health Compounds, compositions and methods comprising pyrazole derivatives
JP6021021B2 (en) 2010-11-05 2016-11-02 国立大学法人京都大学 Method for testing polycystic kidney and screening method for therapeutic agent
JP5717128B2 (en) * 2010-11-24 2015-05-13 国立大学法人東北大学 Chromosomal dominant polycystic kidney determination method and prophylactic / therapeutic drug screening method
WO2013019169A1 (en) 2011-08-01 2013-02-07 Institute For Oneworld Health Phosphate prodrugs
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
JP6682439B2 (en) * 2014-09-03 2020-04-15 大塚製薬株式会社 Pathological condition determination support device, method, program and recording medium
US9976143B2 (en) 2014-10-03 2018-05-22 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
EP3225696B1 (en) 2014-11-19 2020-06-03 Otsuka Pharmaceutical Co., Ltd. Primer set and method for amplifying exons of pkd1 gene and pkd2 gene
CN107847462B (en) * 2015-03-13 2021-08-10 美国印第安纳大学研究和技术公司 Targeting cGMP-related phosphodiesterases to reduce cyst formation of cystic kidney disease and related materials and methods
CN104975081B (en) * 2015-06-01 2019-03-01 南京市妇幼保健院 Detect amplimer, kit and its detection method of PKD1 gene mutation
EP3359685A1 (en) 2015-10-09 2018-08-15 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
WO2017106377A1 (en) 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
CN106995851B (en) * 2017-04-25 2020-07-03 郑州大学第一附属医院 PCR primer for amplifying PKD1 exon ultra-long fragment, kit for detecting PKD1 gene mutation and application
CN111278991B (en) 2017-08-25 2022-04-01 斯托克制药公司 Antisense oligomers for the treatment of conditions and diseases
DE102018103215B3 (en) * 2018-02-13 2019-08-14 Gna Biosolutions Gmbh Method and device for extracting a nucleic acid from a sample fluid
CA3173647A1 (en) 2020-05-11 2021-11-18 Isabel AZNAREZ Opa1 antisense oligomers for treatment of conditions and diseases
JP2024504625A (en) * 2021-01-14 2024-02-01 メイヨ・ファウンデーション・フォー・メディカル・エデュケーション・アンド・リサーチ Improving disease treatment and nucleic acid delivery
WO2023230167A1 (en) * 2022-05-25 2023-11-30 Yale University Methods of treating, ameliorating and/or preventing polycystic kidney disease and polycystic liver disease
CN116732168B (en) * 2023-08-04 2023-11-03 北京贝瑞和康生物技术有限公司 Method and kit for detecting multiple mutations of autosomal dominant polycystic kidney
CN117143997B (en) * 2023-10-31 2024-02-23 北京中仪康卫医疗器械有限公司 Primer set, kit and detection method for PKD1 gene mutation detection

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6071717A (en) * 1995-01-31 2000-06-06 Genzyme Corporation Polycystic kidney disease gene and protein

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5474796A (en) * 1991-09-04 1995-12-12 Protogene Laboratories, Inc. Method and apparatus for conducting an array of chemical reactions on a support surface
EP1262564A3 (en) * 1993-01-07 2004-03-31 Sequenom, Inc. Dna sequencing by mass spectrometry
US5837832A (en) * 1993-06-25 1998-11-17 Affymetrix, Inc. Arrays of nucleic acid probes on biological chips
US5472672A (en) * 1993-10-22 1995-12-05 The Board Of Trustees Of The Leland Stanford Junior University Apparatus and method for polymer synthesis using arrays
WO1995018225A1 (en) 1993-12-24 1995-07-06 Medical Research Council Polycystic kidney disease 1 gene and uses thereof
US5654170A (en) * 1994-10-12 1997-08-05 Johns Hopkins University Polycystic kidney disease gene
US6867288B1 (en) * 1994-10-12 2005-03-15 Genzyme Corporation Polycystic kidney disease gene
WO1997040165A1 (en) * 1996-04-23 1997-10-30 The Wistar Institute Of Anatomy And Biology Novel human cytomegalovirus dna constructs and uses therefor
US6031088A (en) 1996-05-23 2000-02-29 Albert Einstein College Of Medicine Of Yeshiva University Polycystic kidney disease PKD2 gene and uses thereof
EP0918855A1 (en) * 1996-05-24 1999-06-02 Genzyme Corporation Polycystic kidney disease gene
IL131873A0 (en) * 1997-03-13 2001-03-19 First Opinion Corp Disease management system
US6297010B1 (en) * 1998-01-30 2001-10-02 Genzyme Corporation Method for detecting and identifying mutations
US6362326B1 (en) * 1998-12-22 2002-03-26 Smithkline Beecham Corporation 11 cby genomic sequence
IT1304060B1 (en) * 1998-12-29 2001-03-07 St Microelectronics Srl LEVEL VARIATOR FOR MULTIPLE POWER VOLTAGE CIRCUIT
JP2004504038A (en) * 2000-07-13 2004-02-12 ザ　ジョンズ　ホプキンス　ユニバーシティー　スクール　オブ　メディシン Detection and treatment of polycystic kidney disease

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6071717A (en) * 1995-01-31 2000-06-06 Genzyme Corporation Polycystic kidney disease gene and protein

Non-Patent Citations (11)

* Cited by examiner, † Cited by third party
Title
DATABASE EMBL [online] EBI; 4 May 1995 (1995-05-04), WARD ET AL.: "Homo sapiens polycystic kidney disease-associated protein (PKD1) gene", XP002217564, retrieved from HTTP://WWW.EBI.AC.UK Database accession no. L39891 *
NEOPHYTOU PAVLOS ET AL: "Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.", HUMAN GENETICS, vol. 98, no. 4, 1996, pages 437 - 442, XP002217560, ISSN: 0340-6717 *
PERAL B ET AL: "SCREENING 3' REGION OF THE POLYCYSTIC KIDNEY DISEASE 1 (PKD1) GENE REVEALS SIX NOVEL MUTATIONS", AMERICAN JOURNAL OF HUMAN GENETICS, UNIVERSITY OF CHICAGO PRESS, CHICAGO,, US, vol. 58, no. 1, January 1996 (1996-01-01), pages 86 - 96, XP001018250, ISSN: 0002-9297 *
PERRICHOT R A ET AL: "DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.", HUMAN GENETICS, vol. 105, no. 3, 1999, pages 231 - 239, XP002217561, ISSN: 0340-6717 *
PHAKDEEKITCHAROEN BUNYONG ET AL: "Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.", JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol. 12, no. 5, May 2001 (2001-05-01), pages 955 - 963, XP002217652, ISSN: 1046-6673 *
ROELFSEMA JEROEN H ET AL: "Mutation detection in the repeated part of the PKD1 gene.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 5, November 1997 (1997-11-01), pages 1044 - 1052, XP002217563, ISSN: 0002-9297 *
THOMAS RUTH ET AL: "Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 65, no. 1, July 1999 (1999-07-01), pages 39 - 49, XP002217562, ISSN: 0002-9297 *
TURCO ALBERTO E ET AL: "A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.", HUMAN MOLECULAR GENETICS, vol. 4, no. 8, 1995, pages 1331 - 1335, XP001117586, ISSN: 0964-6906 *
WATNICK TERRY ET AL: "Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 65, no. 6, December 1999 (1999-12-01), pages 1561 - 1571, XP002217557, ISSN: 0002-9297 *
WATNICK TERRY J ET AL: "An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.", HUMAN MOLECULAR GENETICS, vol. 6, no. 9, 1997, pages 1473 - 1481, XP002217558, ISSN: 0964-6906 *
WATNICK TERRY J ET AL: "Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.", MOLECULAR CELL, vol. 2, no. 2, August 1998 (1998-08-01), pages 247 - 251, XP002217559, ISSN: 1097-2765 *

Also Published As

Publication number Publication date
CA2395781C (en) 2010-04-13
CA2697031A1 (en) 2002-01-24
JP5536005B2 (en) 2014-07-02
US20140037652A1 (en) 2014-02-06
CA2395781A1 (en) 2002-01-24
CA2697031C (en) 2017-10-31
US8530161B2 (en) 2013-09-10
AU2001271998A1 (en) 2002-01-30
JP2004504038A (en) 2004-02-12
US9670543B2 (en) 2017-06-06
US20030008288A1 (en) 2003-01-09
US7553644B2 (en) 2009-06-30
WO2002006529A2 (en) 2002-01-24
US20060246504A1 (en) 2006-11-02
US20170321278A1 (en) 2017-11-09
JP2012070736A (en) 2012-04-12

Similar Documents

Publication Publication Date Title
WO2002006529A3 (en) Detection and treatment of polycystic kidney disease
WO2002008285A3 (en) Il-17 molecules and uses thereof
EP2009115A3 (en) Methods and nucleic acids for analyses of cellular proliferative disorders
WO2005020785A3 (en) Discovery of the microorganism that causes the human autoimmune disease, primary biliary cirrhosis
CA2407715A1 (en) Diagnostics and therapeutics for macular degeneration-related disorders
WO2005116076A3 (en) Neoplasm-specific polypeptides and their uses
AU2002366641A1 (en) Methods for inhibiting ocular processes
WO2001032876A3 (en) Compositions and methods for determining interactions of mitochondrial components, and for identifying agents that alter such interactions
WO2001011006A3 (en) Detection of micro-organisms
WO2001068859A3 (en) Il-17 receptor like molecules and uses thereof
WO2001072822A3 (en) Genes involved in intestinal inflammatory diseases and use thereof
AU2003223934A1 (en) Recombinant bet. v. 1. allergen mutants, methods and process thereof
CA2531451A1 (en) Methods and nucleic acids for analyses of colorectal cell proliferative disorders
WO2000052479A3 (en) Diagnostics and therapeutics for drusen associated ocular disorders
WO2005027710A3 (en) Methods for identifying subjects at risk of melanoma and treatments thereof
WO1999066075A3 (en) Diagnostic method based on quantification of extramitochondrial dna
AU2002219137A1 (en) Diagnosis kit, dna chip, and methods for diagnosing or supervising the treatment of testicular cancer
AU2002368056A1 (en) Novel pla2 enzyme, it's antibody, enzyme inhibitor and use and the preparation methods thereof
WO2003087325A3 (en) Methods and compositions for preventing and treating microbial infections
WO2001007644A3 (en) Genotyping of the paraoxonase 1 gene for prognosing, diagnosing, and treating a disease
WO2005001140A3 (en) Methods and nucleic acids for the analysis of colon cell proliferative disorders
WO2003055980A3 (en) Il-17 like molecules and uses thereof
HK1042523A1 (en) Nucleic acids, kits, and methods for the diagnosis, prognosis and treatment of glaucoma and related disorders
CA2285633A1 (en) Bacterial plasmids
AU2001256998A1 (en) Compositions and methods for diagnosing and treating conditions, disorders, or diseases involving cell death

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A2

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NO NZ PL PT RO RU SD SE SG SI SK SL TJ TM TR TT TZ UA UG US US UZ VN YU ZA ZW

AL Designated countries for regional patents

Kind code of ref document: A2

Designated state(s): GH GM KE LS MW MZ SD SL SZ TZ UG ZW AM AZ BY KG KZ MD RU TJ TM AT BE CH CY DE DK ES FI FR GB GR IE IT LU MC NL PT SE TR BF BJ CF CG CI CM GA GN GW ML MR NE SN TD TG

121 Ep: the epo has been informed by wipo that ep was designated in this application
DFPE Request for preliminary examination filed prior to expiration of 19th month from priority date (pct application filed before 20040101)
WWE Wipo information: entry into national phase

Ref document number: 2395781

Country of ref document: CA

ENP Entry into the national phase

Ref country code: JP

Ref document number: 2002 512419

Kind code of ref document: A

Format of ref document f/p: F

REG Reference to national code

Ref country code: DE

Ref legal event code: 8642

122 Ep: pct application non-entry in european phase