WO2015100300A2 - Méthodes pour diagnostiquer et traiter des maladies liées au cuivre - Google Patents

Méthodes pour diagnostiquer et traiter des maladies liées au cuivre Download PDF

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Publication number
WO2015100300A2
WO2015100300A2 PCT/US2014/072093 US2014072093W WO2015100300A2 WO 2015100300 A2 WO2015100300 A2 WO 2015100300A2 US 2014072093 W US2014072093 W US 2014072093W WO 2015100300 A2 WO2015100300 A2 WO 2015100300A2
Authority
WO
WIPO (PCT)
Prior art keywords
marker
clause
ctrl
subject
dependent
Prior art date
Application number
PCT/US2014/072093
Other languages
English (en)
Other versions
WO2015100300A3 (fr
Inventor
Dennis J. Thiele
Byung-Eun Kim
Original Assignee
Duke University
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 Duke University filed Critical Duke University
Priority to US15/106,873 priority Critical patent/US20170037471A1/en
Publication of WO2015100300A2 publication Critical patent/WO2015100300A2/fr
Publication of WO2015100300A3 publication Critical patent/WO2015100300A3/fr

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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
    • 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.)
    • C12N9/0089—Oxidoreductases (1.) acting on superoxide as acceptor (1.15)
    • 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

Definitions

  • the ability to target populations expected to show the highest clinical benefit, based on genetic profile, may enable the repositioning of already marketed drugs, the rescue of drug candidates whose clinical development has been discontinued as a result of safety or efficacy limitations, which may be patient sub-group-specific, and/or an accelerated and less costly development of candidate therapeutics.
  • Effective amount refers to a dosage of compounds or compositions effective for eliciting a desired effect. This term as used herein may also refer to an amount effective at bringing about a desired in vivo effect in an animal, mammal, or human, such as reducing symptoms of Cu-dependent diseases.
  • Treating refers to a subject having a disorder refers to administering a regimen to the subject, e.g., the administration of a cysteine inhibitor-based therapeutic and/or another agent, such that at least one symptom of the disorder is healed, alleviated, relieved, altered, remedied, ameliorated, or improved. Treating includes administering an amount effective to alleviate, relieve, alter, remedy, ameliorate, improve or affect the disorder or the symptoms of the disorder. The treatment may inhibit deterioration or worsening of a symptom of a disorder.
  • Archival tissues such as those having treatment or outcome history, may also be used. Nucleic acid purification may not be necessary.
  • the marker may be assigned a minor allele frequency. There may be variations between subject populations. A marker that is common in one geographical or ethnic group may be rarer in another. The marker may be overrepresented or underrepresented in a group of subjects. Subjects may be divided into groups on the basis of age, sex/gender, and/or race. i. SLC31A1 Polymorphisms
  • the subject may be predisposed to a Cu-dependent disease, or the subject may have a Cu-dependent disease.
  • the subject may be undergoing treatment for cardiovascular disease, cancer, etc.
  • the method of treatment may be the administration of an effective amount of Cu to a subject in need thereof.
  • the method of treatment may be the administration of an effective amount of cysteine protease inhibitor to a subject in need thereof.
  • the method of treatment may be the administration of an effective amount of Cu and cysteine protease inhibitor to a subject in need thereof.
  • the effectiveness of treating a subject with an agent may comprise (1) obtaining a pre- administration sample from a subject prior to administration of the agent; (2) detecting the level, amount or size of a protein, RNA or DNA in the pre-administration sample; (3) obtaining one or more post-administration samples from the subject; (4) detecting the level of expression, size or activity of the protein, RNA or DNA in the post-administration sample; (5) comparing the level of expression or activity of the protein, RNA or DNA in the pre-administration sample with the corresponding protein, RNA or DNA in the post-administration sample, respectively; and (6) altering the administration of the agent to the subject accordingly.
  • the formulations may conveniently be presented in unit dosage form and may be prepared by any methods known in the art of pharmacy. Such methods include the step of bringing into association the active compound(s) with the carrier which constitutes one or more accessory ingredients. In general, the formulations are prepared by uniformly and intimately bringing into association the active compound with liquid carriers or finely divided solid carriers or both, and then if necessary shaping the product.
  • Formulations suitable for parenteral administration include aqueous and nonaqueous isotonic, pyrogen-free, sterile injection solutions which may contain anti-oxidants, buffers, preservatives, stabilizers, bacteriostats, and solutes which render the formulation isotonic with the blood of the intended recipient; and aqueous and non-aqueous sterile suspensions which may include suspending agents and thickening agents, and liposomes or other microparticulate systems which are designed to target the compound to blood components or one or more organs.
  • aqueous and nonaqueous isotonic, pyrogen-free, sterile injection solutions which may contain anti-oxidants, buffers, preservatives, stabilizers, bacteriostats, and solutes which render the formulation isotonic with the blood of the intended recipient
  • aqueous and non-aqueous sterile suspensions which may include suspending agents and thickening agents, and liposomes or other microparticulate systems which are designed to
  • Clause 20 A method for treating a Cu-dependent disease, comprising administering an effective amount of cysteine protease inhibitor to a subject in need thereof.
  • Clause 28 The method of clause 27, wherein the Cu-dependent disease is mediated by abnormal enzyme activity, and wherein Cu is a cofactor for the enzyme.
  • Clause 45 The method of clause 41, wherein the Cu-dependent disease is mediated by abnormal superoxide dismutase activity.

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

L'invention concerne des méthodes et des substances permettant de diagnostiquer la prédisposition d'un patient à une maladie cardiovasculaire par détection d'un marqueur génétique de déficience en cuivre; ainsi que des procédés permettant d'atténuer un trouble lié au transport de Cu.
PCT/US2014/072093 2013-12-23 2014-12-23 Méthodes pour diagnostiquer et traiter des maladies liées au cuivre WO2015100300A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
US15/106,873 US20170037471A1 (en) 2013-12-23 2014-12-23 Methods for diagnosing & treating copper-dependent diseases

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201361920066P 2013-12-23 2013-12-23
US61/920,066 2013-12-23

Publications (2)

Publication Number Publication Date
WO2015100300A2 true WO2015100300A2 (fr) 2015-07-02
WO2015100300A3 WO2015100300A3 (fr) 2015-11-12

Family

ID=53479782

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2014/072093 WO2015100300A2 (fr) 2013-12-23 2014-12-23 Méthodes pour diagnostiquer et traiter des maladies liées au cuivre

Country Status (1)

Country Link
WO (1) WO2015100300A2 (fr)

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2566257A1 (fr) * 2004-05-07 2005-11-24 Applera Corporation Polymorphismes genetiques associes a des maladies vasculaires, procedes de detection et utilisations de ceux-ci
WO2007084818A2 (fr) * 2006-01-10 2007-07-26 Pipex, Inc. Compositions pharmaceutiques et méthodes permettant d'obtenir et de maintenir un taux de cuivre cible, stable, et de prévenir et de traiter des maladies du système nerveux central liées au taux de cuivre sérique

Also Published As

Publication number Publication date
WO2015100300A3 (fr) 2015-11-12

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