AU2017319507B2 - Compositions and methods for the diagnosis and treatment of lymphatic system disorders - Google Patents

Compositions and methods for the diagnosis and treatment of lymphatic system disorders Download PDF

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Publication number
AU2017319507B2
AU2017319507B2 AU2017319507A AU2017319507A AU2017319507B2 AU 2017319507 B2 AU2017319507 B2 AU 2017319507B2 AU 2017319507 A AU2017319507 A AU 2017319507A AU 2017319507 A AU2017319507 A AU 2017319507A AU 2017319507 B2 AU2017319507 B2 AU 2017319507B2
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inhibitors
mtor
lymphatic
snv
patient
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AU2017319507A1 (en
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Hakon Hakonarson
Dong Li
Kenny Nguyen
Patrick SLEIMAN
Lifeng TIAN
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Children's Hospital of Philadelphia
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Children's Hospital of Philadelphia
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    • 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
    • A61K31/41—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
    • A61K31/435—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
    • A61K31/4353—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 ortho- or peri-condensed with heterocyclic ring systems
    • A61K31/436—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 ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a six-membered ring having oxygen as a ring hetero atom, e.g. rapamycin
    • 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
    • A61K31/4427—Non condensed pyridines; Hydrogenated derivatives thereof containing further heterocyclic ring systems
    • 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
    • A61K31/4709—Non-condensed quinolines and containing further heterocyclic 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
    • A61K31/495—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
    • A61K31/501—Pyridazines; Hydrogenated pyridazines not condensed and containing further heterocyclic 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
    • A61K31/495—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
    • A61K31/519—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with heterocyclic 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
    • A61K31/535—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with at least one nitrogen and one oxygen as the ring hetero atoms, e.g. 1,2-oxazines
    • A61K31/5375—1,4-Oxazines, e.g. morpholine
    • A61K31/5377—1,4-Oxazines, e.g. morpholine not condensed and containing further heterocyclic rings, e.g. timolol
    • 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
    • A61P35/00—Antineoplastic agents
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • 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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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Veterinary Medicine (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pathology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
AU2017319507A 2016-08-31 2017-08-30 Compositions and methods for the diagnosis and treatment of lymphatic system disorders Active AU2017319507B2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2024201122A AU2024201122B2 (en) 2016-08-31 2024-02-21 Compositions and methods for the diagnosis and treatment of lymphatic system disorders

Applications Claiming Priority (3)

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US201662382147P 2016-08-31 2016-08-31
US62/382,147 2016-08-31
PCT/US2017/049453 WO2018045078A2 (en) 2016-08-31 2017-08-30 Compositions and methods for the diagnosis and treatment of lymphatic system disorders

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AU2024201122A Division AU2024201122B2 (en) 2016-08-31 2024-02-21 Compositions and methods for the diagnosis and treatment of lymphatic system disorders

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AU2017319507A1 AU2017319507A1 (en) 2019-03-14
AU2017319507B2 true AU2017319507B2 (en) 2023-11-23

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US (3) US11401553B2 (enExample)
EP (2) EP4023769A1 (enExample)
JP (3) JP7202287B2 (enExample)
AU (1) AU2017319507B2 (enExample)
DK (1) DK3506899T3 (enExample)
ES (1) ES2906333T3 (enExample)
WO (1) WO2018045078A2 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2018045078A2 (en) * 2016-08-31 2018-03-08 The Children's Hospital Of Philadelphia Compositions and methods for the diagnosis and treatment of lymphatic system disorders
CN121371183A (zh) * 2018-09-07 2026-01-23 费城儿童医院 用于淋巴系统病症的诊断和治疗的组合物和方法
WO2021231814A1 (en) * 2020-05-14 2021-11-18 The Trustees Of Columbia University In The City Of New York Compositions and methods for the treatment and prevention of vascular malformations
US12070468B2 (en) * 2020-05-14 2024-08-27 The Trustees Of Columbia University In The City Of New York Compositions and methods for the treatment and prevention of vascular malformations
WO2023229605A1 (en) * 2022-05-27 2023-11-30 Avalo Therapeutics, Inc. Methods and treatment for complex lymphatic malformations

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GB9212416D0 (en) 1992-06-11 1992-07-22 Medical Res Council Reversible binding substances
US6057098A (en) 1997-04-04 2000-05-02 Biosite Diagnostics, Inc. Polyvalent display libraries
US20080131887A1 (en) * 2006-11-30 2008-06-05 Stephan Dietrich A Genetic Analysis Systems and Methods
US9018912B2 (en) 2011-05-17 2015-04-28 Inphi Corporation System and method for managing parallel-connected battery cells
US10835513B2 (en) 2013-06-28 2020-11-17 The Regents Of The University Of California Methods and treatments for the learning and memory deficits associated with Noonan syndrome
CN106061482A (zh) * 2013-10-08 2016-10-26 拉姆医疗公司 用于治疗淋巴管平滑肌瘤病的雷帕霉素
AU2014368912B2 (en) * 2013-12-20 2020-04-30 Biomed Valley Discoveries, Inc. Cancer treatments using combinations of type 2 MEK and ERK inhibitors
JP6429306B2 (ja) * 2014-03-26 2018-11-28 国立大学法人東北大学 Ｃｆｃ症候群モデルマウスの作製とその治療法の確立
WO2018045078A2 (en) * 2016-08-31 2018-03-08 The Children's Hospital Of Philadelphia Compositions and methods for the diagnosis and treatment of lymphatic system disorders
WO2018126192A1 (en) 2016-12-30 2018-07-05 Children's Medical Center Corporation Map2k1 (mek1) as a therapeutic target for arteriovenous malformations and associated disorders

Non-Patent Citations (3)

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Title
LI, D. ET AL.: "Whole Exome Sequencing Identifies EPHB4 As A Novel Cause Of Autosomal Dominant Lymphangiomatosis", 2015 ACMG ANNUAL CLINICAL GENETICS MEETING; SALT LAKE CITY, UTAH, USA; MARCH 24-28,2015, (2015-03-01), pp 1-2, XP009518754 *
RICCI, K.W. ET AL.: "A Phase 2 Clinical Trial Assessing Efficacy And Safety Of The mTOR Inhibitor Sirolimus In The Treatment Of Generalized Lymphatic Anomaly...", D23 PEDIATRIC RARE DISEASES AND LUNG DEVELOPMENT, 2015, pages 1, XP9515309 *
SILVIA MARTIN-ALMEDINA ET AL: "EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis", JOURNAL OF CLINICAL INVESTIGATION, vol. 126, no. 8, 11 July 2016 (2016-07-11), GB, pages 3080 - 3088, *

Also Published As

Publication number Publication date
EP3506899A4 (en) 2020-05-20
EP3506899A2 (en) 2019-07-10
EP4023769A1 (en) 2022-07-06
US11401553B2 (en) 2022-08-02
CA3034786A1 (en) 2018-03-08
JP2025016454A (ja) 2025-02-04
WO2018045078A2 (en) 2018-03-08
AU2024201122A1 (en) 2024-03-14
US20230048706A1 (en) 2023-02-16
JP7202287B2 (ja) 2023-01-11
DK3506899T3 (da) 2022-03-07
ES2906333T3 (es) 2022-04-18
US12509729B2 (en) 2025-12-30
EP3506899B1 (en) 2021-12-15
US20260209853A1 (en) 2026-07-23
JP2023052057A (ja) 2023-04-11
WO2018045078A3 (en) 2019-04-25
AU2017319507A1 (en) 2019-03-14
JP2019533987A (ja) 2019-11-28
US20200056238A1 (en) 2020-02-20

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