AU2016293068A1 - Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy - Google Patents

Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy Download PDF

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Publication number
AU2016293068A1
AU2016293068A1 AU2016293068A AU2016293068A AU2016293068A1 AU 2016293068 A1 AU2016293068 A1 AU 2016293068A1 AU 2016293068 A AU2016293068 A AU 2016293068A AU 2016293068 A AU2016293068 A AU 2016293068A AU 2016293068 A1 AU2016293068 A1 AU 2016293068A1
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AU
Australia
Prior art keywords
levels
marker
sphingosine
increased
decreased
Prior art date
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Abandoned
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AU2016293068A
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English (en)
Inventor
Stephane FOURCADE
Mariona JOVÉ FONT
Adolfo José LÓPEZ DE MUNAIN ARREGI
Reinaldo Pamplona Gras
Manuel PORTERO OTÍN
Aurora Pujol Onofre
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.)
Institut De Recerca Biomedica De Lleida Fundacio Dr Pifarre
Fundacio Privada Institut dInvestigacio Biomedica de Bellvitge IDIBELL
Institucio Catalana de Recerca i Estudis Avancats ICREA
Universitat de Lleida
Administracion General de la Comunidad Autonoma de Euskadi
Original Assignee
Inst De Recerca Biomedica De Lleida Fundacio Dr Pifarre
Fundacio Privada Institut dInvestigacio Biomedica de Bellvitge IDIBELL
Institucio Catalana de Recerca i Estudis Avancats ICREA
Universitat de Lleida
Administracion General de la Comunidad Autonoma de Euskadi
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.)
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Application filed by Inst De Recerca Biomedica De Lleida Fundacio Dr Pifarre, Fundacio Privada Institut dInvestigacio Biomedica de Bellvitge IDIBELL, Institucio Catalana de Recerca i Estudis Avancats ICREA, Universitat de Lleida, Administracion General de la Comunidad Autonoma de Euskadi filed Critical Inst De Recerca Biomedica De Lleida Fundacio Dr Pifarre
Publication of AU2016293068A1 publication Critical patent/AU2016293068A1/en
Abandoned legal-status Critical Current

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    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • 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
    • C12Q1/48—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving transferase
    • C12Q1/485—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving transferase involving kinase
    • 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
    • A61K31/13—Amines
    • A61K31/135—Amines having aromatic rings, e.g. ketamine, nortriptyline
    • 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
    • A61K31/13—Amines
    • A61K31/135—Amines having aromatic rings, e.g. ketamine, nortriptyline
    • A61K31/137—Arylalkylamines, e.g. amphetamine, epinephrine, salbutamol, ephedrine or methadone
    • 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 
    • A61K31/353—3,4-Dihydrobenzopyrans, e.g. chroman, catechin
    • A61K31/355—Tocopherols, e.g. vitamin E
    • 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
    • A61K31/38—Heterocyclic compounds having sulfur as a ring hetero atom
    • A61K31/385—Heterocyclic compounds having sulfur as a ring hetero atom having two or more sulfur atoms in the same ring
    • 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
    • A61K31/397—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having four-membered rings, e.g. azetidine
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • 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
    • G01N33/92—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • 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
    • C12Q2600/158—Expression 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
    • G01N2333/91—Transferases (2.)
    • G01N2333/912—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • G01N2333/91205—Phosphotransferases in general
    • G01N2333/9121—Phosphotransferases in general with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases
    • G01N2333/91215—Phosphotransferases in general with an alcohol group as acceptor (2.7.1), e.g. general tyrosine, serine or threonine kinases with a definite EC number (2.7.1.-)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00—Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/08—Sphingolipids
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/56—Staging of a disease; Further complications associated with the disease

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biomedical Technology (AREA)
  • Epidemiology (AREA)
  • Immunology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Organic Chemistry (AREA)
  • Pathology (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Endocrinology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • General Engineering & Computer Science (AREA)
  • Emergency Medicine (AREA)
  • Obesity (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
AU2016293068A 2015-07-14 2016-07-14 Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy Abandoned AU2016293068A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP15382366.1A EP3118621A1 (en) 2015-07-14 2015-07-14 Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy
EP15382366.1 2015-07-14
PCT/EP2016/066825 WO2017009437A1 (en) 2015-07-14 2016-07-14 Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy

Publications (1)

Publication Number Publication Date
AU2016293068A1 true AU2016293068A1 (en) 2018-02-01

Family

ID=53776537

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2016293068A Abandoned AU2016293068A1 (en) 2015-07-14 2016-07-14 Methods and compositions for the diagnosis and for the treatment of adrenoleukodystrophy

Country Status (12)

Country Link
US (1) US20190010535A1 (enExample)
EP (2) EP3118621A1 (enExample)
JP (1) JP2018529081A (enExample)
KR (1) KR20180030074A (enExample)
CN (1) CN107923897A (enExample)
AU (1) AU2016293068A1 (enExample)
BR (1) BR112018000749A2 (enExample)
CA (1) CA2991586A1 (enExample)
CL (1) CL2018000078A1 (enExample)
HK (1) HK1253769A1 (enExample)
MX (1) MX2018000464A (enExample)
WO (1) WO2017009437A1 (enExample)

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US12172017B2 (en) * 2011-05-09 2024-12-24 Setpoint Medical Corporation Vagus nerve stimulation to treat neurodegenerative disorders
US11311725B2 (en) 2014-10-24 2022-04-26 Setpoint Medical Corporation Systems and methods for stimulating and/or monitoring loci in the brain to treat inflammation and to enhance vagus nerve stimulation
US11406833B2 (en) 2015-02-03 2022-08-09 Setpoint Medical Corporation Apparatus and method for reminding, prompting, or alerting a patient with an implanted stimulator
US10596367B2 (en) 2016-01-13 2020-03-24 Setpoint Medical Corporation Systems and methods for establishing a nerve block
WO2017127756A1 (en) 2016-01-20 2017-07-27 Setpoint Medical Corporation Control of vagal stimulation
US11471681B2 (en) 2016-01-20 2022-10-18 Setpoint Medical Corporation Batteryless implantable microstimulators
US10583304B2 (en) 2016-01-25 2020-03-10 Setpoint Medical Corporation Implantable neurostimulator having power control and thermal regulation and methods of use
US11958805B2 (en) * 2017-03-09 2024-04-16 Novartis Ag Solid forms comprising an oxime ether compound, compositions and methods of use thereof
WO2019036470A1 (en) 2017-08-14 2019-02-21 Setpoint Medical Corporation TESTING TEST FOR STIMULATION OF NERVE WAVE
CN107362351B (zh) * 2017-09-04 2020-11-10 上海市儿童医院 Il-36r的拮抗剂在制备镇痛药物中的应用
US12276670B2 (en) 2017-09-29 2025-04-15 The General Hospital Corporation Methods for identifying and treating adrenomyeloneuropathy (AMN)
US11260229B2 (en) 2018-09-25 2022-03-01 The Feinstein Institutes For Medical Research Methods and apparatuses for reducing bleeding via coordinated trigeminal and vagal nerve stimulation
KR102252167B1 (ko) * 2018-11-22 2021-05-17 연세대학교 산학협력단 X-연관 부신백질이영양증 진단용 바이오마커 조성물
AU2020272128B9 (en) 2019-04-12 2025-11-20 Setpoint Medical Corporation Vagus nerve stimulation to treat neurodegenerative disorders
IL298193B2 (en) 2020-05-21 2024-01-01 Feinstein Institutes For Medical Research Systems and methods for vagus nerve stimulation
US12444497B2 (en) 2021-05-17 2025-10-14 Setpoint Medical Corporation Neurostimulation parameter authentication and expiration system for neurostimulation
FR3132910A1 (fr) * 2022-02-24 2023-08-25 Universite De Bourgogne Methodes pour le pronostic et le suivi des leucodystrophies peroxysomales
EP4431945A1 (en) * 2023-03-16 2024-09-18 Institut d'Investigació Biomèdica de Bellvitge (IDIBELL) Biomarkers discriminating the discordant phenotypes of x-adrenoleukodystrophy

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CN1355193A (zh) * 2000-12-01 2002-06-26 复旦大学 一种新的多肽——肾上腺脑白质营养不良相关蛋白10.78和编码这种多肽的多核苷酸
CA2752003A1 (en) 2009-02-24 2010-09-02 Novartis Ag Ceramide-analogous metabolites
US20100260755A1 (en) * 2009-04-09 2010-10-14 Medicinova, Inc. Ibudilast and immunomodulators combination
ES2377381B1 (es) * 2010-05-17 2013-03-14 Fundació Institut De Investigació Biomèdica De Bellvitge (Idibell) Uso de una combinación de n-acetil-cisteína y ácido lipoico para la preparación de un medicamento útil para el tratamiento de una enfermedad con daño axonal y lesiones oxidativas concomitantes.
JP2013533286A (ja) * 2010-07-30 2013-08-22 セントルイス ユニバーシティ 疼痛を治療する方法
WO2012112933A1 (en) * 2011-02-18 2012-08-23 The Scripps Research Institute Directed differentiation of oligodendrocyte precursor cells to a myelinating cell fate
EP2527344A1 (en) * 2011-05-25 2012-11-28 Almirall, S.A. Pyridin-2(1H)-one derivatives useful as medicaments for the treatment of myeloproliferative disorders, transplant rejection, immune-mediated and inflammatory diseases
AU2014205529B2 (en) * 2013-01-08 2018-08-09 Pathologica Llc Methods and compositions for treatment of demyelinating diseases
JP2016519684A (ja) * 2013-04-08 2016-07-07 デニス エム ブラウン 準最適に投与された薬物療法の有効性を改善するための及び／又は副作用を低減するための方法および組成物

Also Published As

Publication number Publication date
EP3322980B1 (en) 2020-09-09
MX2018000464A (es) 2018-09-06
EP3322980A1 (en) 2018-05-23
EP3118621A1 (en) 2017-01-18
HK1253769A1 (zh) 2019-07-05
JP2018529081A (ja) 2018-10-04
CA2991586A1 (en) 2017-01-19
US20190010535A1 (en) 2019-01-10
CN107923897A (zh) 2018-04-17
CL2018000078A1 (es) 2018-07-06
KR20180030074A (ko) 2018-03-21
BR112018000749A2 (pt) 2018-09-04
WO2017009437A1 (en) 2017-01-19

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