CY1122605T1 - Θεραπεια δεοξυνουκλεοσιδιου για νοσους οι οποιες οφειλονται σε μη ισορροπημενες ομαδες νουκλεοτιδιων, οπου συμπεριλαμβανονται συνδρομα εξαντλησης μιτοχονδριακου dna - Google Patents
Θεραπεια δεοξυνουκλεοσιδιου για νοσους οι οποιες οφειλονται σε μη ισορροπημενες ομαδες νουκλεοτιδιων, οπου συμπεριλαμβανονται συνδρομα εξαντλησης μιτοχονδριακου dnaInfo
- Publication number
- CY1122605T1 CY1122605T1 CY20191101127T CY191101127T CY1122605T1 CY 1122605 T1 CY1122605 T1 CY 1122605T1 CY 20191101127 T CY20191101127 T CY 20191101127T CY 191101127 T CY191101127 T CY 191101127T CY 1122605 T1 CY1122605 T1 CY 1122605T1
- Authority
- CY
- Cyprus
- Prior art keywords
- mitochondrial dna
- dna depletion
- deoxynucleoside
- unbalanced nucleotide
- diseases due
- Prior art date
Links
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 title abstract 3
- 201000002697 mitochondrial DNA depletion syndrome Diseases 0.000 title abstract 3
- 239000002773 nucleotide Substances 0.000 title abstract 3
- 201000010099 disease Diseases 0.000 title abstract 2
- 238000002560 therapeutic procedure Methods 0.000 title 1
- IQFYYKKMVGJFEH-XLPZGREQSA-N Thymidine Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 IQFYYKKMVGJFEH-XLPZGREQSA-N 0.000 abstract 3
- 102100027624 Thymidine kinase 2, mitochondrial Human genes 0.000 abstract 3
- 108010036893 thymidine kinase 2 Proteins 0.000 abstract 3
- CKTSBUTUHBMZGZ-SHYZEUOFSA-N 2'‐deoxycytidine Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 CKTSBUTUHBMZGZ-SHYZEUOFSA-N 0.000 abstract 2
- 230000007812 deficiency Effects 0.000 abstract 2
- 239000000203 mixture Substances 0.000 abstract 2
- 125000003729 nucleotide group Chemical group 0.000 abstract 2
- 238000011458 pharmacological treatment Methods 0.000 abstract 2
- CKTSBUTUHBMZGZ-UHFFFAOYSA-N Deoxycytidine Natural products O=C1N=C(N)C=CN1C1OC(CO)C(O)C1 CKTSBUTUHBMZGZ-UHFFFAOYSA-N 0.000 abstract 1
- 208000026350 Inborn Genetic disease Diseases 0.000 abstract 1
- 208000035475 disorder Diseases 0.000 abstract 1
- 208000016361 genetic disease Diseases 0.000 abstract 1
- 238000011422 pharmacological therapy Methods 0.000 abstract 1
- 238000011282 treatment Methods 0.000 abstract 1
Classifications
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- 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
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7068—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
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- 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
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- 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
- A61K31/513—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim having oxo groups directly attached to the heterocyclic ring, e.g. cytosine
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- 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
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7068—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
- A61K31/7072—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid having two oxo groups directly attached to the pyrimidine ring, e.g. uridine, uridylic acid, thymidine, zidovudine
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- 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
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7076—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid
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- 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
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7076—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid
- A61K31/708—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid having oxo groups directly attached to the purine ring system, e.g. guanosine, guanylic acid
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- 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
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- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K9/00—Medicinal preparations characterised by special physical form
- A61K9/0012—Galenical forms characterised by the site of application
- A61K9/0053—Mouth and digestive tract, i.e. intraoral and peroral administration
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- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P21/00—Drugs for disorders of the muscular or neuromuscular system
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- 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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- 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
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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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
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- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- General Health & Medical Sciences (AREA)
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- Animal Behavior & Ethology (AREA)
- Veterinary Medicine (AREA)
- Pharmacology & Pharmacy (AREA)
- Epidemiology (AREA)
- Molecular Biology (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Neurology (AREA)
- Orthopedic Medicine & Surgery (AREA)
- Physical Education & Sports Medicine (AREA)
- Biotechnology (AREA)
- Genetics & Genomics (AREA)
- Immunology (AREA)
- Physiology (AREA)
- Nutrition Science (AREA)
- Biomedical Technology (AREA)
- Microbiology (AREA)
- Urology & Nephrology (AREA)
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- Analytical Chemistry (AREA)
- Biochemistry (AREA)
- Wood Science & Technology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Hematology (AREA)
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- General Physics & Mathematics (AREA)
- Food Science & Technology (AREA)
Abstract
Η εφεύρεση αφορά γενικά μία φαρμακολογική θεραπεία για ανθρώπινες γενετικές νόσους, συγκεκριμένα νόσους οι οποίες χαρακτηρίζονται από μη ισορροπημένες ομάδες νουκλεοτιδίων, πλέον συγκεκριμένα σύνδρομα εξάντλησης μιτοχονδριακού DNA και πλέον συγκεκριμένα, έλλειψη κινάσης θυμιδίνης 2 (ΤΚ2). Η φαρμακολογική θεραπεία συμπεριλαμβάνει τη χορήγηση τουλάχιστον ενός δεοξυνουκλεοσιδίου ή μειγμάτων αυτών. Για την αγωγή της έλλειψης ΤΚ2, η φαρμακολογική θεραπεία συμπεριλαμβάνει τη χορήγηση είτε δεοξυθυμιδίνης (dT) είτε δεοξυκυτιδίνης (dC) είτε μειγμάτων αυτών. Η χορήγηση αυτή δεοξυνουκλεοσιδίων μπορεί να εφαρμόζεται σε άλλες διαταραχές μη ισορροπημένων ομάδων νουκλεοτιδίων, ειδικά αυτών οι οποίες απαντώνται στο σύνδρομο εξάντλησης μιτοχονδριακού DNA.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201562180914P | 2015-06-17 | 2015-06-17 | |
PCT/US2016/038110 WO2016205671A1 (en) | 2015-06-17 | 2016-06-17 | Deoxynucleoside therapy for diseases caused by unbalanced nucleotide pools including mitochondrial dna depletion syndromes |
Publications (1)
Publication Number | Publication Date |
---|---|
CY1122605T1 true CY1122605T1 (el) | 2021-03-12 |
Family
ID=57546446
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CY20191101127T CY1122605T1 (el) | 2015-06-17 | 2019-10-30 | Θεραπεια δεοξυνουκλεοσιδιου για νοσους οι οποιες οφειλονται σε μη ισορροπημενες ομαδες νουκλεοτιδιων, οπου συμπεριλαμβανονται συνδρομα εξαντλησης μιτοχονδριακου dna |
CY20201100578T CY1123107T1 (el) | 2015-06-17 | 2020-06-25 | Θεραπεια δεοξυνουκλεοσιδιου για νοσους οι οποιες οφειλονται σε μη ισορροπημενες ομαδες νουκλεοτιδιων, οπου συμπεριλαμβανονται συνδρομα εξαντλησης μιτοχονδριακου dna |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
CY20201100578T CY1123107T1 (el) | 2015-06-17 | 2020-06-25 | Θεραπεια δεοξυνουκλεοσιδιου για νοσους οι οποιες οφειλονται σε μη ισορροπημενες ομαδες νουκλεοτιδιων, οπου συμπεριλαμβανονται συνδρομα εξαντλησης μιτοχονδριακου dna |
Country Status (23)
Country | Link |
---|---|
US (4) | US10471087B2 (el) |
EP (3) | EP3310362B1 (el) |
JP (3) | JP6599484B2 (el) |
KR (2) | KR20180039624A (el) |
CN (2) | CN116726035A (el) |
AU (3) | AU2016280293B2 (el) |
BR (2) | BR112017027079B1 (el) |
CA (1) | CA2989653A1 (el) |
CY (2) | CY1122605T1 (el) |
DK (2) | DK3505174T3 (el) |
ES (2) | ES2748556T3 (el) |
HK (1) | HK1252133A1 (el) |
HR (2) | HRP20191794T1 (el) |
HU (2) | HUE050678T2 (el) |
IL (3) | IL275256B2 (el) |
LT (2) | LT3505174T (el) |
MX (2) | MX2017016425A (el) |
PL (2) | PL3310362T3 (el) |
PT (2) | PT3310362T (el) |
RS (2) | RS60572B1 (el) |
RU (2) | RU2721492C2 (el) |
SI (2) | SI3310362T1 (el) |
WO (1) | WO2016205671A1 (el) |
Families Citing this family (18)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US10292996B2 (en) | 2015-03-26 | 2019-05-21 | The Trustees Of Columbia University In The City Of New York | Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome |
DK3505174T3 (da) * | 2015-06-17 | 2020-07-13 | Univ Columbia | Deoxynukleosidterapi mod sygdomme forårsaget af ubalancerede nukleotid-pools, herunder mitokondrielt dna-depletionssyndromer |
AU2016379345B2 (en) | 2015-12-22 | 2020-09-17 | Zogenix International Limited | Metabolism resistant fenfluramine analogs and methods of using the same |
SG11201804811WA (en) | 2015-12-22 | 2018-07-30 | Zogenix International Ltd | Fenfluramine compositions and methods of preparing the same |
JP2019526544A (ja) | 2016-08-24 | 2019-09-19 | ゾゲニクス インターナショナル リミテッド | 5−ht2bアゴニストの形成を阻害するための製剤およびその使用方法 |
WO2019051097A1 (en) | 2017-09-08 | 2019-03-14 | The Regents Of The University Of California | RNA-GUIDED ENDONUCLEASE FUSION POLYPEPTIDES AND METHODS OF USING SAME |
US10682317B2 (en) | 2017-09-26 | 2020-06-16 | Zogenix International Limited | Ketogenic diet compatible fenfluramine formulation |
MX2020010667A (es) * | 2018-04-12 | 2021-01-08 | Modis Therapeutics Inc | Profarmacos de desoxinucleosidos para el tratamiento de enfermedades causadas por reservas desequilibradas de nucleotidos. |
EP3790537A1 (en) | 2018-05-11 | 2021-03-17 | Zogenix International Limited | Compositions and methods for treating seizure-induced sudden death |
US11649259B2 (en) | 2019-08-19 | 2023-05-16 | Zogenix Mds, Inc. | Polymorphic forms of deoxycytidine, compositions comprising the same and uses |
CN114340641A (zh) * | 2019-09-05 | 2022-04-12 | 米托瑞因博治疗股份有限公司 | 治疗线粒体dna缺失障碍 |
JP2023518395A (ja) * | 2020-03-19 | 2023-05-01 | インテリア セラピューティクス,インコーポレイテッド | 指向性ゲノム編集のための方法及び組成物 |
US11612574B2 (en) | 2020-07-17 | 2023-03-28 | Zogenix International Limited | Method of treating patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) |
US20220096514A1 (en) * | 2020-09-29 | 2022-03-31 | Zogenix International Limited | Methods of treating thymidine kinase 2 deficiency by administering deoxycytidine and deoxythymidine |
WO2022145439A1 (ja) * | 2020-12-28 | 2022-07-07 | ヤマサ醤油株式会社 | 筋萎縮抑制剤及び筋萎縮を抑制させる方法 |
JP2024515025A (ja) * | 2021-03-26 | 2024-04-04 | ゾジェニックス,インコーポレイテッド | プリン及びピリミジンを含有する水性溶液及びその使用 |
CN117500510A (zh) * | 2021-06-18 | 2024-02-02 | 周格尼克斯公司 | 用于治疗由失衡的核苷酸池引起的线粒体疾病的脱氧核苷的前药 |
WO2024015453A1 (en) * | 2022-07-12 | 2024-01-18 | Zogenix Mds, Inc. | Methods for increasing the bioavailability of nucleoside medicinal agents |
Family Cites Families (7)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN101120947B (zh) * | 1998-08-10 | 2010-11-24 | 艾丹尼克斯(开曼)有限公司 | 用于治疗乙型肝炎的β-L-2′-脱氧-核苷 |
DK1171137T3 (da) * | 1999-02-23 | 2008-03-31 | Univ California | Anvendelse af triacetyluridin til behandling af mitochondriale lidelser |
KR100854398B1 (ko) * | 2000-05-26 | 2008-08-26 | 이데닉스 (케이만) 리미티드 | 베타-l-2'-데옥시-뉴클레오사이드를 이용한 델타형 간염바이러스 감염의 치료방법 |
WO2012125848A2 (en) * | 2011-03-16 | 2012-09-20 | Baylor College Of Medicine | A method for comprehensive sequence analysis using deep sequencing technology |
US10292996B2 (en) | 2015-03-26 | 2019-05-21 | The Trustees Of Columbia University In The City Of New York | Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome |
LT3302499T (lt) * | 2015-06-05 | 2023-05-25 | Fundació Hospital Universitari Vall D'hebron - Institut De Recerca | Mitochondrinių ligų gydymas |
DK3505174T3 (da) * | 2015-06-17 | 2020-07-13 | Univ Columbia | Deoxynukleosidterapi mod sygdomme forårsaget af ubalancerede nukleotid-pools, herunder mitokondrielt dna-depletionssyndromer |
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2016
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- 2016-06-17 BR BR122020021913-0A patent/BR122020021913B1/pt active IP Right Grant
- 2016-06-17 RU RU2018101305A patent/RU2721492C2/ru active
- 2016-06-17 WO PCT/US2016/038110 patent/WO2016205671A1/en active Application Filing
- 2016-06-17 MX MX2017016425A patent/MX2017016425A/es active IP Right Grant
- 2016-06-17 US US15/736,092 patent/US10471087B2/en active Active
- 2016-06-17 RS RS20200779A patent/RS60572B1/sr unknown
- 2016-06-17 CN CN201680045355.XA patent/CN107847512A/zh active Pending
- 2016-06-17 PT PT191560218T patent/PT3505174T/pt unknown
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- 2016-06-17 DK DK16812537.5T patent/DK3310362T3/da active
- 2016-06-17 HU HUE19156021A patent/HUE050678T2/hu unknown
- 2016-06-17 RU RU2020112901A patent/RU2020112901A/ru unknown
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- 2016-06-17 IL IL275256A patent/IL275256B2/en unknown
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