WO2005079815A3 - Methods and reagents for treating autosomal dominant diseases of the eye - Google Patents

Methods and reagents for treating autosomal dominant diseases of the eye Download PDF

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Publication number
WO2005079815A3
WO2005079815A3 PCT/GB2005/000626 GB2005000626W WO2005079815A3 WO 2005079815 A3 WO2005079815 A3 WO 2005079815A3 GB 2005000626 W GB2005000626 W GB 2005000626W WO 2005079815 A3 WO2005079815 A3 WO 2005079815A3
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WO
WIPO (PCT)
Prior art keywords
gene
disease
eye
autosomal dominant
alleles
Prior art date
Application number
PCT/GB2005/000626
Other languages
French (fr)
Other versions
WO2005079815A2 (en
Inventor
Avril Kennan
Peter Humphries
Jane Farrar
Paul Kenna
Aileen Aherne
Niamh Mcnally
Original Assignee
Near Dublin The Provost Fellow
Avril Kennan
Peter Humphries
Jane Farrar
Paul Kenna
Aileen Aherne
Niamh Mcnally
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 Near Dublin The Provost Fellow, Avril Kennan, Peter Humphries, Jane Farrar, Paul Kenna, Aileen Aherne, Niamh Mcnally filed Critical Near Dublin The Provost Fellow
Publication of WO2005079815A2 publication Critical patent/WO2005079815A2/en
Publication of WO2005079815A3 publication Critical patent/WO2005079815A3/en

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C12N15/1137—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing against enzymes
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
    • A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/713—Double-stranded nucleic acids or oligonucleotides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y101/00—Oxidoreductases acting on the CH-OH group of donors (1.1)
    • C12Y101/01—Oxidoreductases acting on the CH-OH group of donors (1.1) with NAD+ or NADP+ as acceptor (1.1.1)
    • C12Y101/01205—IMP dehydrogenase (1.1.1.205)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/11—Antisense
    • C12N2310/111—Antisense spanning the whole gene, or a large part of it
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/50—Physical structure
    • C12N2310/53—Physical structure partially self-complementary or closed

Abstract

The invention relates to treatment for an autosomal dominant disease of the eye such as retinitis pigmentosa or glaucoma comprising means to substantially suppress all alleles of a gene associated with the disease. Replacement of the gene is specifically disclaimed. Typically, the disease is a dominant hereditary disease in which the therapy involves suppressing both a diseased and a normal allele of the gene. The means for suppressing both alleles of the gene of interest typically comprises an siRNA molecule which is designed to silence both alleles of the gene of interest. Medicaments and kits for treating diseases are also described.
PCT/GB2005/000626 2004-02-18 2005-02-17 Methods and reagents for treating autosomal dominant diseases of the eye WO2005079815A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
GBGB0403600.0A GB0403600D0 (en) 2004-02-18 2004-02-18 Methods and reagents for treating disease
GB0403600.0 2004-02-18

Publications (2)

Publication Number Publication Date
WO2005079815A2 WO2005079815A2 (en) 2005-09-01
WO2005079815A3 true WO2005079815A3 (en) 2006-04-27

Family

ID=32039955

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB2005/000626 WO2005079815A2 (en) 2004-02-18 2005-02-17 Methods and reagents for treating autosomal dominant diseases of the eye

Country Status (2)

Country Link
GB (1) GB0403600D0 (en)
WO (1) WO2005079815A2 (en)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
SI1781787T1 (en) * 2004-08-23 2017-08-31 Sylentis S.A.U. Treatment of eye disorders characterized by an elevated intraocular pressure by sirnas
TWI386225B (en) 2004-12-23 2013-02-21 Alcon Inc Rnai inhibition of ctgf for treatment of ocular disorders
TWI401316B (en) * 2004-12-23 2013-07-11 Alcon Inc Rnai inhibition of serum amyloid a for treatment of glaucoma
TW200639252A (en) 2005-02-01 2006-11-16 Alcon Inc RNAi-mediated inhibition of ocular hypertension targets
US7947660B2 (en) 2005-03-11 2011-05-24 Alcon, Inc. RNAi-mediated inhibition of frizzled related protein-1 for treatment of glaucoma
GB0521351D0 (en) 2005-10-20 2005-11-30 Genomica Sau Modulation of TRPV expression levels
GB0521716D0 (en) 2005-10-25 2005-11-30 Genomica Sau Modulation of 11beta-hydroxysteriod dehydrogenase 1 expression for the treatment of ocular diseases
GB201215857D0 (en) 2012-09-05 2012-10-24 Sylentis Sau siRNA and their use in methods and compositions for the treatment and/or prevention of eye conditions
WO2014037686A1 (en) 2012-09-05 2014-03-13 Sylentis S.A.U. Sirna and their use in methods and compositions for the treatment and/or prevention of eye conditions
US10011837B2 (en) 2014-03-04 2018-07-03 Sylentis Sau SiRNAs and their use in methods and compositions for the treatment and/or prevention of eye conditions
IL251178B (en) * 2014-09-16 2022-07-01 Genzyme Corp Adeno-associated viral vectors for treating myocilin (myoc) glaucoma
EP4012035A1 (en) * 2014-09-16 2022-06-15 Genzyme Corporation Adeno-associated viral vectors for treating myocilin (myoc) glaucoma
CA2961523A1 (en) * 2014-09-16 2016-03-24 Genzyme Corporation Adeno-associated viral vectors for treating myocilin (myoc) glaucoma

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997011169A2 (en) * 1995-09-21 1997-03-27 Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabeth Near Dublin Strategy for suppressing the expression of an endogeneous gene by using compounds that are able to bind to the non-coding regions of the gene to be suppressed
US20030224516A1 (en) * 2002-06-03 2003-12-04 Isis Pharmaceuticals Inc. Antisense modulation of prox-1 expression
WO2004022782A2 (en) * 2002-09-04 2004-03-18 Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabeth Near Dublin Compositions and methods for tissue specific or inducible inhibition of gene expression
WO2004094636A1 (en) * 2003-04-24 2004-11-04 Galapagos Genomics N.V. Effective sirna knock-down constructs

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997011169A2 (en) * 1995-09-21 1997-03-27 Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabeth Near Dublin Strategy for suppressing the expression of an endogeneous gene by using compounds that are able to bind to the non-coding regions of the gene to be suppressed
US20030224516A1 (en) * 2002-06-03 2003-12-04 Isis Pharmaceuticals Inc. Antisense modulation of prox-1 expression
WO2004022782A2 (en) * 2002-09-04 2004-03-18 Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabeth Near Dublin Compositions and methods for tissue specific or inducible inhibition of gene expression
WO2004094636A1 (en) * 2003-04-24 2004-11-04 Galapagos Genomics N.V. Effective sirna knock-down constructs

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
AHERNE AILEEN ET AL: "On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.", HUMAN MOLECULAR GENETICS, vol. 13, no. 6, 15 March 2004 (2004-03-15), pages 641 - 650, XP002346825, ISSN: 0964-6906 *
BOWNE SARA J ET AL: "Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa", HUMAN MOLECULAR GENETICS, vol. 11, no. 5, 1 March 2002 (2002-03-01), pages 559 - 568, XP002346823, ISSN: 0964-6906 *
FARRAR G J ET AL: "On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention", EMBO JOURNAL, vol. 21, no. 5, 1 March 2002 (2002-03-01), pages 857 - 864, XP002254684, ISSN: 0261-4189 *
GU JING JIN ET AL: "Targeted disruption of the inosine 5'-monophosphate dehydrogenase type I gene in mice.", MOLECULAR AND CELLULAR BIOLOGY, vol. 23, no. 18, September 2003 (2003-09-01), pages 6702 - 6712, XP002346824, ISSN: 0270-7306 *
KENNAN AVRIL ET AL: "On the role of IMPDH1 in retinal degeneration.", ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, vol. 533, 2003, pages 13 - 18, XP008053083, ISSN: 0065-2598 *

Also Published As

Publication number Publication date
GB0403600D0 (en) 2004-03-24
WO2005079815A2 (en) 2005-09-01

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