ES2686300T3 - Asociación de variaciones genéticas raras recurrentes con el trastorno por déficit de atención e hiperactividad (TDAH) y procedimientos de uso de las mismas para el diagnóstico y tratamiento del mismo - Google Patents

Asociación de variaciones genéticas raras recurrentes con el trastorno por déficit de atención e hiperactividad (TDAH) y procedimientos de uso de las mismas para el diagnóstico y tratamiento del mismo Download PDF

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ES2686300T3
ES2686300T3 ES11820610T ES11820610T ES2686300T3 ES 2686300 T3 ES2686300 T3 ES 2686300T3 ES 11820610 T ES11820610 T ES 11820610T ES 11820610 T ES11820610 T ES 11820610T ES 2686300 T3 ES2686300 T3 ES 2686300T3
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adhd
attention deficit
hyperactivity disorder
deficit hyperactivity
recurrent
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Joseph Glessner
Josephine Elia
Hakon Hakonarson
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Childrens Hospital of Philadelphia CHOP
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Childrens Hospital of Philadelphia CHOP
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    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/20—Hypnotics; Sedatives
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
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    • 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
    • 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
    • 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
    • C12Q2600/136—Screening for pharmacological compounds
    • 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
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    • 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
    • C12Q2600/16—Primer sets for multiplex assays

Abstract

Un procedimiento para detectar un riesgo aumentado de desarrollar trastorno por déficit de atención e hiperactividad (TDAH) en un sujeto de ensayo, que comprende, a) proporcionar una muestra de ácido nucleico de dicho sujeto; y b) determinar si dicha muestra contiene al menos una variación en el número de copias (CNV) en cualquiera de los genes seleccionados entre GRM5, GRM7, GRM8, GRM1, NEGR1, DPP6, USP24, SLC7A10, CNTN4, CTNNA2, SGTB/NLN y LARP7, en el que si está presente dicha CNV, dicho sujeto tiene un riesgo aumentado de desarrollar TDAH.
ES11820610T 2010-08-24 2011-08-24 Asociación de variaciones genéticas raras recurrentes con el trastorno por déficit de atención e hiperactividad (TDAH) y procedimientos de uso de las mismas para el diagnóstico y tratamiento del mismo Active ES2686300T3 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US37649810P 2010-08-24 2010-08-24
US201161466657P 2011-03-23 2011-03-23
PCT/US2011/048993 WO2012027491A1 (en) 2010-08-24 2011-08-24 Association of rare recurrent genetic variations to attention-deficit, hyperactivity disorder (adhd) and methods of use thereof for the diagnosis and treatment of the same

Publications (1)

Publication Number Publication Date
ES2686300T3 true ES2686300T3 (es) 2018-10-17

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ES11820610T Active ES2686300T3 (es) 2010-08-24 2011-08-24 Asociación de variaciones genéticas raras recurrentes con el trastorno por déficit de atención e hiperactividad (TDAH) y procedimientos de uso de las mismas para el diagnóstico y tratamiento del mismo

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US (4) US20130203814A1 (es)
EP (1) EP2609220B1 (es)
JP (2) JP6216486B2 (es)
AU (3) AU2011293363A1 (es)
CA (1) CA2807505A1 (es)
ES (1) ES2686300T3 (es)
WO (1) WO2012027491A1 (es)

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DK2766483T3 (da) 2011-10-10 2022-04-19 Hospital For Sick Children Fremgangsmåder og sammensætninger til screening for og behandling af udviklingsforstyrrelser
US11180807B2 (en) 2011-11-04 2021-11-23 Population Bio, Inc. Methods for detecting a genetic variation in attractin-like 1 (ATRNL1) gene in subject with Parkinson's disease
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DK2895621T3 (da) 2012-09-14 2020-11-30 Population Bio Inc Fremgangsmåder og sammensætning til diagnosticering, prognose og behandling af neurologiske tilstande
EP2900835A4 (en) 2012-09-27 2016-05-11 Population Diagnotics Inc METHODS AND COMPOSITIONS FOR DETECTING AND TREATING DEVELOPMENTAL DISORDERS
US11219617B2 (en) 2014-05-30 2022-01-11 The Children's Hospital Of Philadelphia Methods of diagnosing and treating autism
WO2016036403A1 (en) 2014-09-05 2016-03-10 Population Diagnostics Inc. Methods and compositions for inhibiting and treating neurological conditions
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Publication number Publication date
US10844434B2 (en) 2020-11-24
US20170009296A1 (en) 2017-01-12
JP6216486B2 (ja) 2017-10-18
EP2609220B1 (en) 2018-06-27
AU2011293363A1 (en) 2013-02-28
AU2017245271B2 (en) 2019-12-19
US20130203814A1 (en) 2013-08-08
US20230407399A1 (en) 2023-12-21
US20210254160A1 (en) 2021-08-19
AU2017245271A1 (en) 2017-11-02
JP2017222675A (ja) 2017-12-21
EP2609220A4 (en) 2014-01-22
CA2807505A1 (en) 2012-03-01
EP2609220A1 (en) 2013-07-03
WO2012027491A1 (en) 2012-03-01
AU2017201900B2 (en) 2017-10-12
AU2017201900A1 (en) 2017-04-13
JP2013535985A (ja) 2013-09-19

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