EP3307913A4 - Procédés de diagnostic et de traitement de l'autisme - Google Patents

Procédés de diagnostic et de traitement de l'autisme Download PDF

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Publication number
EP3307913A4
EP3307913A4 EP16812321.4A EP16812321A EP3307913A4 EP 3307913 A4 EP3307913 A4 EP 3307913A4 EP 16812321 A EP16812321 A EP 16812321A EP 3307913 A4 EP3307913 A4 EP 3307913A4
Authority
EP
European Patent Office
Prior art keywords
diagnosing
methods
treating autism
autism
treating
Prior art date
Legal status (The legal status 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 status listed.)
Withdrawn
Application number
EP16812321.4A
Other languages
German (de)
English (en)
Other versions
EP3307913A1 (fr
Inventor
Hakon Hakonarson
Tara Wenger
Charlly Kao
Dexter HADLEY
Zhi-liang WU
Joseph Glessner
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.)
Children's Hospital of Philadelphia
Original Assignee
Children's Hospital of Philadelphia
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
Priority claimed from US14/740,230 external-priority patent/US11219617B2/en
Application filed by Children's Hospital of Philadelphia filed Critical Children's Hospital of Philadelphia
Publication of EP3307913A1 publication Critical patent/EP3307913A1/fr
Publication of EP3307913A4 publication Critical patent/EP3307913A4/fr
Withdrawn legal-status Critical Current

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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
    • 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
    • A61K31/44—Non condensed pyridines; Hydrogenated derivatives thereof
    • A61K31/445—Non condensed piperidines, e.g. piperocaine
    • A61K31/4523—Non condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems
    • A61K31/454—Non condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems containing a five-membered ring with nitrogen as a ring hetero atom, e.g. pimozide, domperidone
    • 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
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug 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
    • 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
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Zoology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Public Health (AREA)
  • General Chemical & Material Sciences (AREA)
  • Epidemiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurosurgery (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Neurology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
EP16812321.4A 2015-06-15 2016-06-15 Procédés de diagnostic et de traitement de l'autisme Withdrawn EP3307913A4 (fr)

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US14/740,230 US11219617B2 (en) 2014-05-30 2015-06-15 Methods of diagnosing and treating autism
US201562215636P 2015-09-08 2015-09-08
US201562215673P 2015-09-08 2015-09-08
US201562215633P 2015-09-08 2015-09-08
US201562215628P 2015-09-08 2015-09-08
PCT/US2016/037596 WO2016205348A1 (fr) 2015-06-15 2016-06-15 Procédés de diagnostic et de traitement de l'autisme

Publications (2)

Publication Number Publication Date
EP3307913A1 EP3307913A1 (fr) 2018-04-18
EP3307913A4 true EP3307913A4 (fr) 2019-03-27

Family

ID=57546224

Family Applications (1)

Application Number Title Priority Date Filing Date
EP16812321.4A Withdrawn EP3307913A4 (fr) 2015-06-15 2016-06-15 Procédés de diagnostic et de traitement de l'autisme

Country Status (5)

Country Link
EP (1) EP3307913A4 (fr)
CN (1) CN108474036A (fr)
AU (1) AU2016278053A1 (fr)
CA (1) CA2989326A1 (fr)
WO (1) WO2016205348A1 (fr)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2807505A1 (fr) 2010-08-24 2012-03-01 The Children's Hospital Of Philadelphia Association de variations genetiques recurrentes rares du trouble du deficit de l'attention avec hyperactivite (tdah) et procedes d'utilisation associes pour le diagnostic et le traitement du tdah
WO2017044491A1 (fr) 2015-09-08 2017-03-16 The Children's Hospital Of Philadelphia Activateurs du récepteur métabotropique du glutamate non sélectifs pour le traitement du trouble déficitaire de l'attention et du syndrome 22q
US11684617B2 (en) 2017-04-19 2023-06-27 The Children's Hospital Of Philadelphia Methods of diagnosing and treating ADHD in biomarker positive subjects
CN109813912B (zh) * 2019-01-04 2021-12-28 深圳大学 一组血清差异蛋白组合在制备用于检测孤独症的试剂中的应用
KR102639856B1 (ko) * 2020-10-14 2024-02-23 한국원자력의학원 미세플라스틱 노출에 의해 유도되는 뇌질환 예후 예측용 바이오마커 조성물 및 이를 이용한 예후 예측방법
CN113706458B (zh) * 2021-07-15 2023-03-28 电子科技大学 基于Gossip模型的自闭症检测装置
CN114446476B (zh) * 2022-01-28 2023-02-17 中南大学湘雅二医院 孤独症治疗效果预测模型构建方法、预测方法及装置
CN119044511B (zh) * 2024-11-01 2025-01-28 中日友好医院(中日友好临床医学研究所) Dkd早期诊断的生物标志物、分析方法、试剂盒及应用

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216734A1 (en) * 2006-03-08 2010-08-26 Braincells, Inc. Modulation of neurogenesis by nootropic agents
US20140315992A1 (en) * 2011-07-07 2014-10-23 The Children's Hospital Of Philadelphia Genetic Alterations Associated with Autism and the Autistic Phenotype and Methods of Use Thereof for the Diagnosis and Treatment of Autism

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA1202962A (fr) 1982-10-19 1986-04-08 David P. Clifford Derives de substitution de n-phenyl-n'-benzoyl-uree; leur utilisation comme insecticides et comme acaricides
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4965188A (en) 1986-08-22 1990-10-23 Cetus Corporation Process for amplifying, detecting, and/or cloning nucleic acid sequences using a thermostable enzyme
FR2597100A1 (fr) 1986-01-21 1987-10-16 Nippon Shinyaku Co Ltd Derives du pyroglutamide
US20140216734A1 (en) * 2013-02-05 2014-08-07 Schlumberger Technology Corporation Casing collar location using elecromagnetic wave phase shift measurement
WO2014152965A2 (fr) * 2013-03-14 2014-09-25 The Children's Hospital Of Philadelphia Loci génétiques associés à la schizophrénie identifiés dans des études d'association sur génome total et leur utilisation en tant que nouvelles cibles thérapeutiques

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216734A1 (en) * 2006-03-08 2010-08-26 Braincells, Inc. Modulation of neurogenesis by nootropic agents
US20140315992A1 (en) * 2011-07-07 2014-10-23 The Children's Hospital Of Philadelphia Genetic Alterations Associated with Autism and the Autistic Phenotype and Methods of Use Thereof for the Diagnosis and Treatment of Autism

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
GREGORY KAREN J ET AL: "Pharmacology of metabotropic glutamate receptor allosteric modulators: structural basis and therapeutic potential for CNS disorders", PROGRESS IN MOLECULAR BIOLOGY AND TRANSLATIONAL SCI, ELSEVIER, NL, vol. 115, 1 January 2013 (2013-01-01), pages 61 - 121, XP009192627, ISSN: 1878-0814, DOI: 10.1016/B978-0-12-394587-7.00002-6 *
MALYKH ANDREI G ET AL: "Piracetam and piracetam-like drugs: from basic science to novel clinical applications to CNS disorders", DRUGS, SPRINGER INTERNATIONAL PUBLISHING, vol. 70, no. 3, 1 January 2010 (2010-01-01), pages 287 - 312, XP009162620, ISSN: 0012-6667, DOI: 10.2165/11319230-000000000-00000 *
See also references of WO2016205348A1 *

Also Published As

Publication number Publication date
EP3307913A1 (fr) 2018-04-18
CN108474036A (zh) 2018-08-31
WO2016205348A1 (fr) 2016-12-22
AU2016278053A1 (en) 2018-01-04
CA2989326A1 (fr) 2016-12-22

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