[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

BR112021021939A2 - Tratamento e detecção de neuropatias herdadas e distúrbios associados - Google Patents

Tratamento e detecção de neuropatias herdadas e distúrbios associados

Info

Publication number
BR112021021939A2
BR112021021939A2 BR112021021939A BR112021021939A BR112021021939A2 BR 112021021939 A2 BR112021021939 A2 BR 112021021939A2 BR 112021021939 A BR112021021939 A BR 112021021939A BR 112021021939 A BR112021021939 A BR 112021021939A BR 112021021939 A2 BR112021021939 A2 BR 112021021939A2
Authority
BR
Brazil
Prior art keywords
detection
treatment
associated disorders
inherited
inherited neuropathies
Prior art date
Application number
BR112021021939A
Other languages
English (en)
Inventor
Adriana Rebelo
Andrea Cortese
N Herrmann David
Grace Zhai Rong
L Zuchner Stephan
Original Assignee
Ucl Business Ltd
Univ Miami
Univ Rochester
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 Ucl Business Ltd, Univ Miami, Univ Rochester filed Critical Ucl Business Ltd
Publication of BR112021021939A2 publication Critical patent/BR112021021939A2/pt

Links

Classifications

    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/44—Oxidoreductases (1)
    • A61K38/443—Oxidoreductases (1) acting on CH-OH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
    • 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
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/185—Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic or hydroximic acids
    • A61K31/19—Carboxylic acids, e.g. valproic acid
    • A61K31/195—Carboxylic acids, e.g. valproic acid having an amino group
    • A61K31/197—Carboxylic acids, e.g. valproic acid having an amino group the amino and the carboxyl groups being attached to the same acyclic carbon chain, e.g. gamma-aminobutyric acid [GABA], beta-alanine, epsilon-aminocaproic acid or pantothenic acid
    • A61K31/198—Alpha-amino acids, e.g. alanine or edetic acid [EDTA]
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/335—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin
    • A61K31/35—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin having six-membered rings with one oxygen as the only ring hetero atom
    • A61K31/352—Heterocyclic compounds having oxygen as the only ring hetero atom, e.g. fungichromin having six-membered rings with one oxygen as the only ring hetero atom condensed with carbocyclic rings, e.g. methantheline 
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
    • A61K31/4164—1,3-Diazoles
    • A61K31/4184—1,3-Diazoles condensed with carbocyclic rings, e.g. benzimidazoles
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
    • A61K31/4164—1,3-Diazoles
    • A61K31/4188—1,3-Diazoles condensed with other heterocyclic ring systems, e.g. biotin, sorbinil
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
    • A61K31/425—Thiazoles
    • A61K31/426—1,3-Thiazoles
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/41—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having five-membered rings with two or more ring hetero atoms, at least one of which being nitrogen, e.g. tetrazole
    • A61K31/425—Thiazoles
    • A61K31/428—Thiazoles condensed with carbocyclic rings
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/47—Quinolines; Isoquinolines
    • A61K31/473—Quinolines; Isoquinolines ortho- or peri-condensed with carbocyclic ring systems, e.g. acridines, phenanthridines
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • A61K31/499—Spiro-condensed pyrazines or piperazines
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • A61K31/50—Pyridazines; Hydrogenated pyridazines
    • A61K31/502—Pyridazines; Hydrogenated pyridazines ortho- or peri-condensed with carbocyclic ring systems, e.g. cinnoline, phthalazine
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • A61K31/505—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
    • A61K31/517—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with carbocyclic ring systems, e.g. quinazoline, perimidine
    • 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
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
    • 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
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • 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
    • 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
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • 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
    • 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
    • C12Q1/26—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving oxidoreductase
    • 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)
    • C12Y101/01014—L-Iditol 2-dehydrogenase (1.1.1.14), i.e. sorbitol-dehydrogenase
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/66—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
    • 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
    • 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 nucleic acids [NA]
    • 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
    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G01N2333/902—Oxidoreductases (1.)
    • G01N2333/904—Oxidoreductases (1.) acting on CHOH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/285—Demyelinating diseases; Multipel sclerosis

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Epidemiology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Pathology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Virology (AREA)
  • Plant Pathology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Hospice & Palliative Care (AREA)
  • Psychiatry (AREA)

Abstract

tratamento e detecção de neuropatias herdadas e distúrbios associados. a presente divulgação refere-se a métodos de detectar e tratar neuropatia herdada.
BR112021021939A 2019-05-07 2020-05-06 Tratamento e detecção de neuropatias herdadas e distúrbios associados BR112021021939A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962844370P 2019-05-07 2019-05-07
US202062987151P 2020-03-09 2020-03-09
PCT/US2020/031708 WO2020227430A1 (en) 2019-05-07 2020-05-06 Treatment and detection of inherited neuropathies and associated disorders

Publications (1)

Publication Number Publication Date
BR112021021939A2 true BR112021021939A2 (pt) 2022-02-22

Family

ID=73050908

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112021021939A BR112021021939A2 (pt) 2019-05-07 2020-05-06 Tratamento e detecção de neuropatias herdadas e distúrbios associados

Country Status (12)

Country Link
US (3) US20220125890A1 (pt)
EP (1) EP3966320A4 (pt)
JP (1) JP2022531466A (pt)
KR (1) KR20220025713A (pt)
CN (1) CN113966396A (pt)
AU (1) AU2020268368A1 (pt)
BR (1) BR112021021939A2 (pt)
CA (1) CA3136100A1 (pt)
IL (1) IL287748A (pt)
MX (1) MX2021013511A (pt)
SG (1) SG11202111822QA (pt)
WO (1) WO2020227430A1 (pt)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111065392B (zh) 2017-07-28 2024-10-25 应用治疗公司 用于治疗半乳糖血症的组合物和方法
EP3966320A4 (en) 2019-05-07 2023-10-25 University of Miami TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS
AU2023207033A1 (en) * 2022-01-13 2024-08-01 Toolgen Incorporated Schwann cell-specific promoter

Family Cites Families (68)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0189272A3 (en) 1985-01-17 1987-08-19 Fujisawa Pharmaceutical Co., Ltd. New furanone derivatives, processes for preparation thereof and use thereof
CA1299178C (en) 1985-11-07 1992-04-21 Banavara Lakshmana Mylari Heterocyclic oxophtalazinyl acetic acids
US4939140A (en) 1985-11-07 1990-07-03 Pfizer Inc. Heterocyclic oxophthalazinyl acetic acids
ES2032749T3 (es) 1985-11-07 1993-03-01 Pfizer Inc. Acidos oxoftalazinil-aceticos heterociclicos.
AU7386887A (en) 1986-06-12 1987-12-17 American Home Products Corporation Method of stimulating the immune system with tolrestat;(n-((5 -(trifluoromethyl)-6-methoxy-1-naphthenyl)thioxomethyl)-n-me hylglycine)
US4868301A (en) 1987-06-09 1989-09-19 Pfizer Inc. Processes and intermediates for the preparation of oxophthalazinyl acetic acids having benzothiazole or other heterocyclic side chains
CA1307537C (en) 1987-12-23 1992-09-15 Jay E. Wrobel N-naphthoylglycines as aldose reductase inhibitors
WO1989006651A1 (en) 1988-01-19 1989-07-27 Pfizer Inc. 1h-indazole-3-acetic acids as aldose reductase inhibitors
US4954629A (en) 1989-05-11 1990-09-04 Pfizer Inc. Process and intermediates for the preparation of oxophthalazinyl acetic acids and analogs thereof
US4996204A (en) 1989-05-11 1991-02-26 Pfizer Inc. Pyrido[2,3-d]pyridazinones as aldose reductase inhibitors
FR2647676A1 (fr) 1989-06-05 1990-12-07 Union Pharma Scient Appl Nouveaux derives de pyridazinone, leurs procedes de preparation, medicaments les contenant, utiles notamment comme inhibiteurs de l'aldose reductase
WO1991009019A1 (en) 1989-12-15 1991-06-27 Pfizer Inc. Substituted oxophthalazinyl acetic acids and analogs thereof
JPH0495025A (ja) 1990-08-08 1992-03-27 Asahi Chem Ind Co Ltd アルドースリダクターゼ阻害剤
US5728704A (en) 1992-09-28 1998-03-17 Pfizer Inc. Substituted pyridmidines for control of diabetic complications
IL113112A (en) 1994-03-28 2000-06-01 Nissan Chemical Ind Ltd Pyridine substituted thiazolidinediones and pharmaceutical compositions comprising them
BR9610207A (pt) 1995-08-28 1999-02-02 American Home Prod Acidos fenóxi acéticos como inibidores da aldose redutase e agentes anti-hiperglicêmicos
US6696407B1 (en) * 1997-03-21 2004-02-24 The Regents Of The University Of California Huntington's disease treatment comprising administering aldose reductase inhibitors to increase striatal CNTF
AU6473898A (en) 1997-03-21 1998-10-20 Regents Of The University Of California, The Methods for modulating neurotrophic factor-associated activity using aldose reductase inhibitors
AU9253798A (en) 1997-09-23 1999-04-12 Novo Nordisk A/S Modules of protein tyrosine phosphatases (ptpases)
CA2383983C (en) 1998-03-31 2009-09-29 The Institutes For Pharmaceutical Discovery, Llc Substituted indolealkanoic acids
EP0982306A3 (en) 1998-08-21 2000-07-05 Pfizer Products Inc. Polymorph of zopolrestat monohydrate
CZ20013465A3 (cs) * 1999-04-01 2002-10-16 Pfizer Products Inc. Aminopyrimidiny jako inhibitory sorbitoldehydrogenasy
JP4511655B2 (ja) * 1999-08-25 2010-07-28 ユニチカ株式会社 ソルビトール脱水素酵素、それを産生する微生物およびその製造方法
US6916824B1 (en) 1999-11-12 2005-07-12 Kansas State University Research Foundation Methods of treating cataracts and diabetic retinopathy with tricyclic pyrones
US20020068740A1 (en) 1999-12-07 2002-06-06 Mylari Banavara L. Combination of aldose reductase inhibitors and antihypertensive agents for the treatment of diabetic complications
US6570013B2 (en) 2000-02-16 2003-05-27 Pfizer Inc Salts of zopolrestat
SK6192003A3 (en) * 2000-11-30 2004-07-07 Pfizer Prod Inc Combination of GABA agonists and sorbitol dehydrogenase inhibitors
JP2004528319A (ja) 2001-03-30 2004-09-16 ファイザー・プロダクツ・インク ピリダジノンアルドースレダクダーゼ阻害物質
ES2274201T3 (es) 2002-01-23 2007-05-16 Eli Lilly And Company Agonistas del receptor de melanocortina.
AU2003243603A1 (en) 2002-06-13 2003-12-31 Board Of Regents, The University Of Texas System Methods and compositions involving aldose reductase inhibitors
CA2489361A1 (en) 2002-06-14 2003-12-24 Takeda Pharmaceutical Company Limited Prodrugs of imidazole derivatives, for use as proton pump inhibitors in the treatment of e.g. peptic ulcers
CA2814774C (en) * 2003-01-31 2016-03-22 Mount Sinai School Of Medicine Of New York University Combination therapy for treating protein deficiency disorders
US7572910B2 (en) 2003-02-20 2009-08-11 Pfizer, Inc. Pyridazinone aldose reductase inhibitors
JP5044122B2 (ja) 2003-10-24 2012-10-10 株式会社明治 後期糖化最終生成物形成の新規阻害剤及びアルドース還元酵素阻害剤
US20070021366A1 (en) 2004-11-19 2007-01-25 Srivastava Satish K Structural-based inhibitors of the glutathione binding site in aldose reductase, methods of screening therefor and methods of use
US20110092566A1 (en) 2004-11-19 2011-04-21 Srivastava Satish K Treatment of cancer with aldose reductase inhibitors
EP2137217B1 (en) 2007-04-05 2014-03-05 Morphotek, Inc. Methods for inhibiting the binding of endosialin to ligands
CN101143868A (zh) 2007-09-04 2008-03-19 北京理工大学 醛糖还原酶抑制剂结构及用途
EP2065038A1 (en) 2007-11-30 2009-06-03 Pharnext New therapeutic approaches for treating Charcot-Marie-Tooth disease
PT2326632T (pt) * 2008-09-06 2017-09-05 Bionevia Pharmaceuticals Inc Novo cocristal de colina de epalrestat
US20100215726A1 (en) 2009-02-25 2010-08-26 Peter Thomas Roth Compositions for Diminishing the Appearance of Wrinkles
US20130029983A1 (en) 2009-09-23 2013-01-31 Carlo Ballatore Aminothienopyridazine inhibitors of tau assembly
US9494605B2 (en) * 2009-11-20 2016-11-15 Pharnext Diagnostic tools for charcot-marie-tooth disease
HUE047346T2 (hu) 2010-07-16 2020-04-28 Univ Columbia Aldóz reduktáz inhibitorok és alkalmazásuk
US8916563B2 (en) 2010-07-16 2014-12-23 The Trustees Of Columbia University In The City Of New York Aldose reductase inhibitors and uses thereof
US10060887B2 (en) 2010-11-15 2018-08-28 The United States Of America As Represented By The Secretary Of The Army Field sampling kit and methods for collecting and detecting alkyl methylphosphonic acids
CN102512407B (zh) 2011-11-23 2014-05-21 中山大学 一种β-苯丙氨酸类化合物作为醛糖还原酶抑制剂的应用
WO2013123403A1 (en) 2012-02-15 2013-08-22 Sanford-Burnham Medical Research Institute Theranostics platform and methods of use
GB201205739D0 (en) 2012-03-30 2012-05-16 Ucl Business Plc Treatment of acute inflammation in the respiratory tract
EP2877214B1 (en) * 2012-07-26 2019-04-24 Joslin Diabetes Center, Inc. Predicting diabetic complications
US20170362237A1 (en) 2016-06-17 2017-12-21 Banavara L. Mylari Water soluble salts of aldose reductase inhibitors for treatment of diabetic complications
US20140228319A1 (en) 2013-02-13 2014-08-14 Banavara L. Mylari Water soluble salts of aldose reductase inhibitors for treatment of diabetic complications
US11484278B2 (en) 2013-03-15 2022-11-01 Biogen Ma Inc. Assessment of labeled probes in a subject
KR20140120834A (ko) * 2013-04-02 2014-10-14 주식회사 종근당 샤르코-마리-투스 질환 치료제의 스크리닝 방법 및 이에 이용되는 자가 분화 운동신경세포
US11078247B2 (en) * 2016-05-04 2021-08-03 Curevac Ag RNA encoding a therapeutic protein
AU2017281082B2 (en) 2016-06-21 2021-03-18 The Trustees Of Columbia University In The City Of New York Aldose reductase inhibitors and methods of use thereof
EP3538115A4 (en) * 2016-11-14 2020-04-22 Memorial Sloan Kettering Cancer Center Stem cell derived schwann cells
CA3057192A1 (en) * 2017-03-23 2018-09-27 President And Fellows Of Harvard College Nucleobase editors comprising nucleic acid programmable dna binding proteins
WO2018200258A1 (en) 2017-04-27 2018-11-01 Applied Therapeutics Inc. Aldose reductase inhibitors and uses thereof
CN111065392B (zh) 2017-07-28 2024-10-25 应用治疗公司 用于治疗半乳糖血症的组合物和方法
US11329472B2 (en) 2018-07-20 2022-05-10 Texas Instruments Incorporated Methods and apparatus to prevent undesired triggering of short circuit or over current protection
EP3840740A4 (en) 2018-08-20 2022-10-05 Maggie's Pearl, LLC COMPOUNDS FOR TREATMENT OF CONGENITAL GLYCOSYLATION DISORDERS
WO2020167937A1 (en) 2019-02-12 2020-08-20 Applied Therapeutics, Inc. Methods for treating cutaneous aging
JP7623292B2 (ja) 2019-04-01 2025-01-28 アプライド セラピューティクス， インコーポレイテッド アルドースレダクターゼの阻害剤
EP3966320A4 (en) * 2019-05-07 2023-10-25 University of Miami TREATMENT AND DETECTION OF HEREDITARY NEUROPATHIES AND ASSOCIATED DISORDERS
CN114667139B (zh) 2019-10-08 2025-03-28 应用治疗公司 用于治疗磷酸甘露变位酶2缺乏的醛糖还原酶抑制剂
EP4125909A1 (en) 2020-03-31 2023-02-08 Applied Therapeutics Inc. Aldose reductase inhibitors for the treatment of acute respiratory distress syndrome, acute lung inflammation/injury, cardiac injury and anti-viral therapy
KR20230005944A (ko) 2020-05-01 2023-01-10 어플라이드 테라퓨틱스 인크. 소르비톨 데히드로게나제 결핍 치료를 위한 알도스 리덕타제 억제제

Also Published As

Publication number Publication date
US20240374693A1 (en) 2024-11-14
US20220249624A1 (en) 2022-08-11
AU2020268368A1 (en) 2022-01-06
KR20220025713A (ko) 2022-03-03
WO2020227430A1 (en) 2020-11-12
US12083168B2 (en) 2024-09-10
US20220125890A1 (en) 2022-04-28
IL287748A (en) 2022-01-01
CN113966396A (zh) 2022-01-21
JP2022531466A (ja) 2022-07-06
CA3136100A1 (en) 2020-11-12
EP3966320A4 (en) 2023-10-25
SG11202111822QA (en) 2021-11-29
EP3966320A1 (en) 2022-03-16
US20230293642A9 (en) 2023-09-21
MX2021013511A (es) 2022-02-23

Similar Documents

Publication Publication Date Title
CY1121653T1 (el) C1-inh συνθεσεις και μεθοδοι για την προληψη και αγωγη διαταραχων συνδεομενων με ανεπαρκεια αναστολεα c1 εστερασης
BR112017024212A2 (pt) sequências de uricases melhoradas e métodos de tratamento
BR112021021939A2 (pt) Tratamento e detecção de neuropatias herdadas e distúrbios associados
EA201991556A1 (ru) Ингибиторы фосфодиэстеразы и способы лечения микробной инфекции
EA201790811A1 (ru) Содержащие бактерии композиции и способы для улучшения видов поведения при нарушениях неврологического развития
EA201791775A1 (ru) Цистеиновая протеаза
CY1123914T1 (el) Αντιμετωπιση των αυξημενων επιπεδων ηωσινοφιλων και/ή βασεοφιλων
EA201891539A1 (ru) Соединения, ингибирующие металлоферменты
BR112017020149A8 (pt) Derivados de maitansinoide, conjugados dos mesmos e métodos de uso
MX387283B (es) Tratamiento del cancer con tg02.
EP3478932A4 (en) DAS-VSP SURVEY PROCESSING AND ORDERING IN REAL TIME
EA201791773A1 (ru) Цистеиновая протеаза
BR112017021312A2 (pt) tratamento de câncer de pulmão com inibidores de glutaminase
EA201890185A1 (ru) Способы лечения опосредованных гепсидином нарушений
MX394355B (es) Método de tratamiento de meduloblastoma con un inhibidor de ezh2.
EA201790769A1 (ru) Определение уровней гликозаминогликанов методом масс-спектрометрии
EP3952727A4 (en) Sensing physiological parameters through an article
MX390320B (es) Farmaco de combinacion.
CY1124759T1 (el) Μεθοδοι για τη θεραπεια της οξειας νεφρικης βλαβης
IL269083A (en) Methods for preventing and treating heart disease
EA201792641A1 (ru) Ингибитор оси igfbp3/tmem219 и диабет
MX2019005065A (es) Metodos de tratamiento de pacientes con cancer con inhibidores de farnesiltransferasa.
EP3787492A4 (en) Detection of regions exhibiting irregular electrophysiological activity
MA55515A (fr) Procédés de traitement de la dystrophie musculaire avec casimersen
EA201690559A1 (ru) Способы определения ответа на терапию