IL303968A - Arimoclomol for the treatment of niemann pick disease, type c, in patients with er type missense mutations - Google Patents
Arimoclomol for the treatment of niemann pick disease, type c, in patients with er type missense mutationsInfo
- Publication number
- IL303968A IL303968A IL303968A IL30396823A IL303968A IL 303968 A IL303968 A IL 303968A IL 303968 A IL303968 A IL 303968A IL 30396823 A IL30396823 A IL 30396823A IL 303968 A IL303968 A IL 303968A
- Authority
- IL
- Israel
- Prior art keywords
- active pharmaceutical
- pharmaceutical ingredient
- day
- administered
- subject
- Prior art date
Links
- SGEIEGAXKLMUIZ-ZPTIMJQQSA-N (3e)-n-[(2r)-2-hydroxy-3-piperidin-1-ylpropoxy]-1-oxidopyridin-1-ium-3-carboximidoyl chloride Chemical compound C([C@H](O)CN1CCCCC1)O\N=C(\Cl)C1=CC=C[N+]([O-])=C1 SGEIEGAXKLMUIZ-ZPTIMJQQSA-N 0.000 title claims description 369
- 229950011582 arimoclomol Drugs 0.000 title claims description 360
- 230000035772 mutation Effects 0.000 title claims description 163
- 238000011282 treatment Methods 0.000 title claims description 99
- 208000014060 Niemann-Pick disease Diseases 0.000 title claims description 44
- 229910052799 carbon Inorganic materials 0.000 title description 2
- 239000002243 precursor Substances 0.000 title description 2
- 239000008186 active pharmaceutical agent Substances 0.000 claims description 500
- 210000002472 endoplasmic reticulum Anatomy 0.000 claims description 156
- 108090000623 proteins and genes Proteins 0.000 claims description 124
- 230000037396 body weight Effects 0.000 claims description 83
- 238000000034 method Methods 0.000 claims description 82
- UQRORFVVSGFNRO-UTINFBMNSA-N miglustat Chemical group CCCCN1C[C@H](O)[C@@H](O)[C@H](O)[C@H]1CO UQRORFVVSGFNRO-UTINFBMNSA-N 0.000 claims description 80
- 229960001512 miglustat Drugs 0.000 claims description 77
- 102100029565 NPC intracellular cholesterol transporter 1 Human genes 0.000 claims description 73
- 101001124388 Homo sapiens NPC intracellular cholesterol transporter 1 Proteins 0.000 claims description 71
- IKRZCYCTPYDXML-UHFFFAOYSA-N 2-hydroxypropane-1,2,3-tricarboxylic acid;hydrochloride Chemical compound Cl.OC(=O)CC(O)(C(O)=O)CC(O)=O IKRZCYCTPYDXML-UHFFFAOYSA-N 0.000 claims description 49
- 102000004169 proteins and genes Human genes 0.000 claims description 49
- 102200041394 rs200444084 Human genes 0.000 claims description 43
- 230000008859 change Effects 0.000 claims description 40
- 150000003839 salts Chemical class 0.000 claims description 38
- 108700028369 Alleles Proteins 0.000 claims description 36
- VEXZGXHMUGYJMC-UHFFFAOYSA-M Chloride anion Chemical compound [Cl-] VEXZGXHMUGYJMC-UHFFFAOYSA-M 0.000 claims description 36
- 102200041370 rs80358259 Human genes 0.000 claims description 32
- 239000002253 acid Substances 0.000 claims description 29
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 29
- 102200041382 rs28942105 Human genes 0.000 claims description 29
- HVYWMOMLDIMFJA-DPAQBDIFSA-N cholesterol Chemical compound C1C=C2C[C@@H](O)CC[C@]2(C)[C@@H]2[C@@H]1[C@@H]1CC[C@H]([C@H](C)CCCC(C)C)[C@@]1(C)CC2 HVYWMOMLDIMFJA-DPAQBDIFSA-N 0.000 claims description 22
- 201000010099 disease Diseases 0.000 claims description 20
- 102200041544 rs80358257 Human genes 0.000 claims description 20
- 230000000717 retained effect Effects 0.000 claims description 15
- 102200041396 rs778878523 Human genes 0.000 claims description 15
- 230000015556 catabolic process Effects 0.000 claims description 12
- 238000006731 degradation reaction Methods 0.000 claims description 12
- 150000001413 amino acids Chemical class 0.000 claims description 10
- 239000003814 drug Substances 0.000 claims description 10
- 241000282414 Homo sapiens Species 0.000 claims description 9
- 230000008901 benefit Effects 0.000 claims description 9
- 235000012000 cholesterol Nutrition 0.000 claims description 9
- 238000004519 manufacturing process Methods 0.000 claims description 9
- 101150049361 npc-1 gene Proteins 0.000 claims description 9
- 238000009825 accumulation Methods 0.000 claims description 8
- 102200041543 rs28942104 Human genes 0.000 claims description 8
- 125000000217 alkyl group Chemical group 0.000 claims description 7
- 102220363142 c.3451G>A Human genes 0.000 claims description 7
- 210000003819 peripheral blood mononuclear cell Anatomy 0.000 claims description 7
- 102200041526 rs773767253 Human genes 0.000 claims description 7
- 210000002966 serum Anatomy 0.000 claims description 7
- 102220631475 NPC intracellular cholesterol transporter 1_L724P_mutation Human genes 0.000 claims description 6
- 102220613840 NPC intracellular cholesterol transporter 1_W942C_mutation Human genes 0.000 claims description 6
- 102220366337 c.1034G>C Human genes 0.000 claims description 6
- YMMFNKXZULYSOQ-UHFFFAOYSA-N cholestanetriol Natural products C1C(O)C2(O)CC(O)CCC2(C)C2C1C1CCC(C(C)CCCC(C)C)C1(C)CC2 YMMFNKXZULYSOQ-UHFFFAOYSA-N 0.000 claims description 6
- 230000004043 responsiveness Effects 0.000 claims description 6
- 102200040665 rs120074134 Human genes 0.000 claims description 6
- 102200040814 rs120074136 Human genes 0.000 claims description 6
- 102200040682 rs139751448 Human genes 0.000 claims description 6
- 102200040897 rs80358253 Human genes 0.000 claims description 6
- 230000002459 sustained effect Effects 0.000 claims description 6
- 241000124008 Mammalia Species 0.000 claims description 5
- 125000004432 carbon atom Chemical group C* 0.000 claims description 5
- LXBIFEVIBLOUGU-UHFFFAOYSA-N Deoxymannojirimycin Natural products OCC1NCC(O)C(O)C1O LXBIFEVIBLOUGU-UHFFFAOYSA-N 0.000 claims description 4
- 229940042126 oral powder Drugs 0.000 claims description 4
- 239000000725 suspension Substances 0.000 claims description 4
- 239000012472 biological sample Substances 0.000 claims description 3
- 230000000977 initiatory effect Effects 0.000 claims description 3
- 239000007788 liquid Substances 0.000 claims description 3
- 108020004707 nucleic acids Proteins 0.000 claims description 3
- 102000039446 nucleic acids Human genes 0.000 claims description 3
- 150000007523 nucleic acids Chemical class 0.000 claims description 3
- 230000000069 prophylactic effect Effects 0.000 claims description 3
- 238000012163 sequencing technique Methods 0.000 claims description 3
- 230000002123 temporal effect Effects 0.000 claims description 3
- 239000002775 capsule Substances 0.000 claims description 2
- 230000001747 exhibiting effect Effects 0.000 claims description 2
- 239000004615 ingredient Substances 0.000 claims description 2
- 239000012458 free base Substances 0.000 description 186
- 235000018102 proteins Nutrition 0.000 description 44
- 239000000902 placebo Substances 0.000 description 41
- 229940068196 placebo Drugs 0.000 description 41
- 210000004027 cell Anatomy 0.000 description 20
- 238000004458 analytical method Methods 0.000 description 18
- LOKCTEFSRHRXRJ-UHFFFAOYSA-I dipotassium trisodium dihydrogen phosphate hydrogen phosphate dichloride Chemical compound P(=O)(O)(O)[O-].[K+].P(=O)(O)([O-])[O-].[Na+].[Na+].[Cl-].[K+].[Cl-].[Na+] LOKCTEFSRHRXRJ-UHFFFAOYSA-I 0.000 description 18
- 239000002953 phosphate buffered saline Substances 0.000 description 18
- 108700018419 Niemann-Pick C1 Proteins 0.000 description 17
- 101000895926 Streptomyces plicatus Endo-beta-N-acetylglucosaminidase H Proteins 0.000 description 17
- 239000000203 mixture Substances 0.000 description 17
- 101001109579 Homo sapiens NPC intracellular cholesterol transporter 2 Proteins 0.000 description 15
- 102100022737 NPC intracellular cholesterol transporter 2 Human genes 0.000 description 15
- 201000000785 Niemann-Pick disease type C2 Diseases 0.000 description 15
- 208000011910 type C2 Niemann-Pick disease Diseases 0.000 description 15
- -1 citrate salt Chemical class 0.000 description 14
- 206010061818 Disease progression Diseases 0.000 description 13
- 235000001014 amino acid Nutrition 0.000 description 13
- 230000005750 disease progression Effects 0.000 description 13
- 229940024606 amino acid Drugs 0.000 description 12
- 210000002950 fibroblast Anatomy 0.000 description 12
- 230000009467 reduction Effects 0.000 description 12
- 230000000694 effects Effects 0.000 description 11
- 208000024891 symptom Diseases 0.000 description 11
- 150000001875 compounds Chemical class 0.000 description 9
- 208000035475 disorder Diseases 0.000 description 9
- 239000008194 pharmaceutical composition Substances 0.000 description 9
- 206010060860 Neurological symptom Diseases 0.000 description 8
- 239000003795 chemical substances by application Substances 0.000 description 8
- 230000037433 frameshift Effects 0.000 description 8
- 230000002132 lysosomal effect Effects 0.000 description 8
- FXNSRODXMVUCNJ-ODZAUARKSA-N (z)-but-2-enedioic acid;hydrochloride Chemical compound Cl.OC(=O)\C=C/C(O)=O FXNSRODXMVUCNJ-ODZAUARKSA-N 0.000 description 7
- 102000004243 Tubulin Human genes 0.000 description 6
- 108090000704 Tubulin Proteins 0.000 description 6
- 230000035508 accumulation Effects 0.000 description 6
- DDRJAANPRJIHGJ-UHFFFAOYSA-N creatinine Chemical compound CN1CC(=O)NC1=N DDRJAANPRJIHGJ-UHFFFAOYSA-N 0.000 description 6
- 230000029087 digestion Effects 0.000 description 6
- 239000002773 nucleotide Substances 0.000 description 6
- 125000003729 nucleotide group Chemical group 0.000 description 6
- 238000012360 testing method Methods 0.000 description 6
- 101710163595 Chaperone protein DnaK Proteins 0.000 description 5
- 101710178376 Heat shock 70 kDa protein Proteins 0.000 description 5
- 101710152018 Heat shock cognate 70 kDa protein Proteins 0.000 description 5
- 229940079593 drug Drugs 0.000 description 5
- 230000035800 maturation Effects 0.000 description 5
- 238000011002 quantification Methods 0.000 description 5
- 239000000126 substance Substances 0.000 description 5
- 230000032258 transport Effects 0.000 description 5
- 108010090665 Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase Proteins 0.000 description 4
- 230000019771 cognition Effects 0.000 description 4
- 238000003745 diagnosis Methods 0.000 description 4
- 238000001990 intravenous administration Methods 0.000 description 4
- 230000000366 juvenile effect Effects 0.000 description 4
- 150000002632 lipids Chemical class 0.000 description 4
- 230000004807 localization Effects 0.000 description 4
- 210000003712 lysosome Anatomy 0.000 description 4
- 230000001868 lysosomic effect Effects 0.000 description 4
- 230000002028 premature Effects 0.000 description 4
- 238000010186 staining Methods 0.000 description 4
- 230000009747 swallowing Effects 0.000 description 4
- 238000001262 western blot Methods 0.000 description 4
- GOJUJUVQIVIZAV-UHFFFAOYSA-N 2-amino-4,6-dichloropyrimidine-5-carbaldehyde Chemical group NC1=NC(Cl)=C(C=O)C(Cl)=N1 GOJUJUVQIVIZAV-UHFFFAOYSA-N 0.000 description 3
- 206010010904 Convulsion Diseases 0.000 description 3
- 102220629428 NPC intracellular cholesterol transporter 1_H510P_mutation Human genes 0.000 description 3
- 238000010171 animal model Methods 0.000 description 3
- 239000000090 biomarker Substances 0.000 description 3
- 230000001413 cellular effect Effects 0.000 description 3
- 229940109239 creatinine Drugs 0.000 description 3
- 206010015037 epilepsy Diseases 0.000 description 3
- 238000002474 experimental method Methods 0.000 description 3
- 231100000221 frame shift mutation induction Toxicity 0.000 description 3
- 230000014509 gene expression Effects 0.000 description 3
- 238000007918 intramuscular administration Methods 0.000 description 3
- 150000007522 mineralic acids Chemical class 0.000 description 3
- 230000000869 mutational effect Effects 0.000 description 3
- 101150107867 npc-2 gene Proteins 0.000 description 3
- 150000007524 organic acids Chemical class 0.000 description 3
- 238000013105 post hoc analysis Methods 0.000 description 3
- 230000000750 progressive effect Effects 0.000 description 3
- 230000004044 response Effects 0.000 description 3
- 102200041476 rs143124972 Human genes 0.000 description 3
- 102200040712 rs483352886 Human genes 0.000 description 3
- 239000000523 sample Substances 0.000 description 3
- 238000007920 subcutaneous administration Methods 0.000 description 3
- 101710117545 C protein Proteins 0.000 description 2
- 241000282472 Canis lupus familiaris Species 0.000 description 2
- KRKNYBCHXYNGOX-UHFFFAOYSA-K Citrate Chemical compound [O-]C(=O)CC(O)(CC([O-])=O)C([O-])=O KRKNYBCHXYNGOX-UHFFFAOYSA-K 0.000 description 2
- 102000004190 Enzymes Human genes 0.000 description 2
- 108090000790 Enzymes Proteins 0.000 description 2
- 229930183931 Filipin Natural products 0.000 description 2
- 108010004889 Heat-Shock Proteins Proteins 0.000 description 2
- 102000002812 Heat-Shock Proteins Human genes 0.000 description 2
- 208000015439 Lysosomal storage disease Diseases 0.000 description 2
- 241000699670 Mus sp. Species 0.000 description 2
- 102220631415 NPC intracellular cholesterol transporter 1_G248V_mutation Human genes 0.000 description 2
- 208000008457 Neurologic Manifestations Diseases 0.000 description 2
- 108020004485 Nonsense Codon Proteins 0.000 description 2
- 241000700159 Rattus Species 0.000 description 2
- 206010057190 Respiratory tract infections Diseases 0.000 description 2
- 108091007407 SLC65A1 Proteins 0.000 description 2
- 241000282887 Suidae Species 0.000 description 2
- 230000001594 aberrant effect Effects 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 150000003863 ammonium salts Chemical class 0.000 description 2
- KRKNYBCHXYNGOX-UHFFFAOYSA-N citric acid Chemical group OC(=O)CC(O)(C(O)=O)CC(O)=O KRKNYBCHXYNGOX-UHFFFAOYSA-N 0.000 description 2
- 238000011260 co-administration Methods 0.000 description 2
- 239000002299 complementary DNA Substances 0.000 description 2
- 238000011156 evaluation Methods 0.000 description 2
- 239000000284 extract Substances 0.000 description 2
- IMQSIXYSKPIGPD-NKYUYKLDSA-N filipin Chemical compound CCCCC[C@H](O)[C@@H]1[C@@H](O)C[C@@H](O)C[C@@H](O)C[C@@H](O)C[C@@H](O)C[C@@H](O)C[C@H](O)\C(C)=C\C=C\C=C\C=C\C=C\[C@H](O)[C@@H](C)OC1=O IMQSIXYSKPIGPD-NKYUYKLDSA-N 0.000 description 2
- 229950000152 filipin Drugs 0.000 description 2
- IMQSIXYSKPIGPD-UHFFFAOYSA-N filipin III Natural products CCCCCC(O)C1C(O)CC(O)CC(O)CC(O)CC(O)CC(O)CC(O)C(C)=CC=CC=CC=CC=CC(O)C(C)OC1=O IMQSIXYSKPIGPD-UHFFFAOYSA-N 0.000 description 2
- 238000003205 genotyping method Methods 0.000 description 2
- 150000002339 glycosphingolipids Chemical class 0.000 description 2
- 230000006872 improvement Effects 0.000 description 2
- 238000000338 in vitro Methods 0.000 description 2
- 230000003993 interaction Effects 0.000 description 2
- 238000007912 intraperitoneal administration Methods 0.000 description 2
- 239000011159 matrix material Substances 0.000 description 2
- 238000005259 measurement Methods 0.000 description 2
- 238000002483 medication Methods 0.000 description 2
- 239000012528 membrane Substances 0.000 description 2
- 230000007659 motor function Effects 0.000 description 2
- 230000004770 neurodegeneration Effects 0.000 description 2
- 235000005985 organic acids Nutrition 0.000 description 2
- 238000007427 paired t-test Methods 0.000 description 2
- 238000007911 parenteral administration Methods 0.000 description 2
- 102200040686 rs1298238512 Human genes 0.000 description 2
- 102200041518 rs28942108 Human genes 0.000 description 2
- 102200040711 rs377515417 Human genes 0.000 description 2
- 102200041386 rs748862167 Human genes 0.000 description 2
- 102200041522 rs80358254 Human genes 0.000 description 2
- 238000002415 sodium dodecyl sulfate polyacrylamide gel electrophoresis Methods 0.000 description 2
- 238000001228 spectrum Methods 0.000 description 2
- 238000006467 substitution reaction Methods 0.000 description 2
- 229940124597 therapeutic agent Drugs 0.000 description 2
- 230000001225 therapeutic effect Effects 0.000 description 2
- WWUZIQQURGPMPG-UHFFFAOYSA-N (-)-D-erythro-Sphingosine Natural products CCCCCCCCCCCCCC=CC(O)C(N)CO WWUZIQQURGPMPG-UHFFFAOYSA-N 0.000 description 1
- SGEIEGAXKLMUIZ-PEZBUJJGSA-N (3z)-n-(2-hydroxy-3-piperidin-1-ylpropoxy)-1-oxidopyridin-1-ium-3-carboximidoyl chloride Chemical compound C1CCCCN1CC(O)CO\N=C(/Cl)C1=CC=C[N+]([O-])=C1 SGEIEGAXKLMUIZ-PEZBUJJGSA-N 0.000 description 1
- RLCVJYKAOMJMNT-UHFFFAOYSA-N 1-(hydroxymethyl)piperidine-3,4,5-triol Chemical compound OCN1CC(O)C(O)C(O)C1 RLCVJYKAOMJMNT-UHFFFAOYSA-N 0.000 description 1
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 1
- 208000000187 Abnormal Reflex Diseases 0.000 description 1
- 208000028185 Angioedema Diseases 0.000 description 1
- 206010003591 Ataxia Diseases 0.000 description 1
- 241000283690 Bos taurus Species 0.000 description 1
- COVZYZSDYWQREU-UHFFFAOYSA-N Busulfan Chemical compound CS(=O)(=O)OCCCCOS(C)(=O)=O COVZYZSDYWQREU-UHFFFAOYSA-N 0.000 description 1
- OYPRJOBELJOOCE-UHFFFAOYSA-N Calcium Chemical compound [Ca] OYPRJOBELJOOCE-UHFFFAOYSA-N 0.000 description 1
- 206010007617 Cardio-respiratory arrest Diseases 0.000 description 1
- 208000001573 Cataplexy Diseases 0.000 description 1
- 206010008025 Cerebellar ataxia Diseases 0.000 description 1
- 108020004705 Codon Proteins 0.000 description 1
- 208000028698 Cognitive impairment Diseases 0.000 description 1
- 230000009946 DNA mutation Effects 0.000 description 1
- 238000001712 DNA sequencing Methods 0.000 description 1
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 1
- 241000283086 Equidae Species 0.000 description 1
- 241000282326 Felis catus Species 0.000 description 1
- 208000010496 Heart Arrest Diseases 0.000 description 1
- 102100040352 Heat shock 70 kDa protein 1A Human genes 0.000 description 1
- 241000282412 Homo Species 0.000 description 1
- 101001037759 Homo sapiens Heat shock 70 kDa protein 1A Proteins 0.000 description 1
- VEXZGXHMUGYJMC-UHFFFAOYSA-N Hydrochloric acid Chemical group Cl VEXZGXHMUGYJMC-UHFFFAOYSA-N 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 206010021639 Incontinence Diseases 0.000 description 1
- 208000031942 Late Onset disease Diseases 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 108010021466 Mutant Proteins Proteins 0.000 description 1
- 102000008300 Mutant Proteins Human genes 0.000 description 1
- 102220592844 NPC intracellular cholesterol transporter 1_D242H_mutation Human genes 0.000 description 1
- 102220629417 NPC intracellular cholesterol transporter 1_L472P_mutation Human genes 0.000 description 1
- 102220628754 NPC intracellular cholesterol transporter 1_R1059Q_mutation Human genes 0.000 description 1
- GRYLNZFGIOXLOG-UHFFFAOYSA-N Nitric acid Chemical class O[N+]([O-])=O GRYLNZFGIOXLOG-UHFFFAOYSA-N 0.000 description 1
- 241000283973 Oryctolagus cuniculus Species 0.000 description 1
- 241001494479 Pecora Species 0.000 description 1
- 102000035195 Peptidases Human genes 0.000 description 1
- 108091005804 Peptidases Proteins 0.000 description 1
- 102000004160 Phosphoric Monoester Hydrolases Human genes 0.000 description 1
- 108090000608 Phosphoric Monoester Hydrolases Proteins 0.000 description 1
- 206010036437 Posturing Diseases 0.000 description 1
- 239000004365 Protease Substances 0.000 description 1
- 239000012083 RIPA buffer Substances 0.000 description 1
- 238000000692 Student's t-test Methods 0.000 description 1
- 206010044565 Tremor Diseases 0.000 description 1
- 206010046306 Upper respiratory tract infection Diseases 0.000 description 1
- 208000024780 Urticaria Diseases 0.000 description 1
- 206010047700 Vomiting Diseases 0.000 description 1
- 208000027418 Wounds and injury Diseases 0.000 description 1
- 239000004480 active ingredient Substances 0.000 description 1
- 230000002411 adverse Effects 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 206010002026 amyotrophic lateral sclerosis Diseases 0.000 description 1
- SGEIEGAXKLMUIZ-CYBMUJFWSA-N arimoclomol Chemical compound C([C@H](O)CN1CCCCC1)ON=C(Cl)C1=CC=C[N+]([O-])=C1 SGEIEGAXKLMUIZ-CYBMUJFWSA-N 0.000 description 1
- 238000003149 assay kit Methods 0.000 description 1
- 230000006399 behavior Effects 0.000 description 1
- 230000009286 beneficial effect Effects 0.000 description 1
- WPYMKLBDIGXBTP-UHFFFAOYSA-N benzoic acid group Chemical group C(C1=CC=CC=C1)(=O)O WPYMKLBDIGXBTP-UHFFFAOYSA-N 0.000 description 1
- 230000031018 biological processes and functions Effects 0.000 description 1
- 210000004369 blood Anatomy 0.000 description 1
- 239000008280 blood Substances 0.000 description 1
- 230000008499 blood brain barrier function Effects 0.000 description 1
- 210000001218 blood-brain barrier Anatomy 0.000 description 1
- 238000010322 bone marrow transplantation Methods 0.000 description 1
- 210000000133 brain stem Anatomy 0.000 description 1
- 210000005013 brain tissue Anatomy 0.000 description 1
- 125000000484 butyl group Chemical group [H]C([*])([H])C([H])([H])C([H])([H])C([H])([H])[H] 0.000 description 1
- 102220383756 c.2942C>T Human genes 0.000 description 1
- 229910052791 calcium Inorganic materials 0.000 description 1
- 239000011575 calcium Substances 0.000 description 1
- 238000004113 cell culture Methods 0.000 description 1
- 210000001175 cerebrospinal fluid Anatomy 0.000 description 1
- 150000001860 citric acid derivatives Chemical class 0.000 description 1
- 208000010877 cognitive disease Diseases 0.000 description 1
- 239000002131 composite material Substances 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- 239000013078 crystal Chemical group 0.000 description 1
- WZHCOOQXZCIUNC-UHFFFAOYSA-N cyclandelate Chemical compound C1C(C)(C)CC(C)CC1OC(=O)C(O)C1=CC=CC=C1 WZHCOOQXZCIUNC-UHFFFAOYSA-N 0.000 description 1
- 230000006378 damage Effects 0.000 description 1
- 230000034994 death Effects 0.000 description 1
- 230000003247 decreasing effect Effects 0.000 description 1
- 230000002950 deficient Effects 0.000 description 1
- 230000006735 deficit Effects 0.000 description 1
- 230000022811 deglycosylation Effects 0.000 description 1
- 238000012217 deletion Methods 0.000 description 1
- 230000037430 deletion Effects 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 230000001687 destabilization Effects 0.000 description 1
- 230000006866 deterioration Effects 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 230000004069 differentiation Effects 0.000 description 1
- 239000003085 diluting agent Substances 0.000 description 1
- 239000002552 dosage form Substances 0.000 description 1
- 231100000673 dose–response relationship Toxicity 0.000 description 1
- 230000006862 enzymatic digestion Effects 0.000 description 1
- 230000002255 enzymatic effect Effects 0.000 description 1
- 150000002148 esters Chemical class 0.000 description 1
- 230000004424 eye movement Effects 0.000 description 1
- 238000009472 formulation Methods 0.000 description 1
- 230000006870 function Effects 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 230000002068 genetic effect Effects 0.000 description 1
- 230000008303 genetic mechanism Effects 0.000 description 1
- 230000013595 glycosylation Effects 0.000 description 1
- 238000006206 glycosylation reaction Methods 0.000 description 1
- 208000035474 group of disease Diseases 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- 125000004051 hexyl group Chemical group [H]C([H])([H])C([H])([H])C([H])([H])C([H])([H])C([H])([H])C([H])([H])* 0.000 description 1
- 230000013632 homeostatic process Effects 0.000 description 1
- 206010020745 hyperreflexia Diseases 0.000 description 1
- 230000035859 hyperreflexia Effects 0.000 description 1
- 230000001771 impaired effect Effects 0.000 description 1
- 238000001802 infusion Methods 0.000 description 1
- 239000003112 inhibitor Substances 0.000 description 1
- 230000002401 inhibitory effect Effects 0.000 description 1
- 238000002347 injection Methods 0.000 description 1
- 239000007924 injection Substances 0.000 description 1
- 208000014674 injury Diseases 0.000 description 1
- 238000003780 insertion Methods 0.000 description 1
- 230000037431 insertion Effects 0.000 description 1
- 230000010189 intracellular transport Effects 0.000 description 1
- 238000007913 intrathecal administration Methods 0.000 description 1
- 230000002601 intratumoral effect Effects 0.000 description 1
- 230000003907 kidney function Effects 0.000 description 1
- 231100000518 lethal Toxicity 0.000 description 1
- 230000001665 lethal effect Effects 0.000 description 1
- 230000006372 lipid accumulation Effects 0.000 description 1
- 210000004185 liver Anatomy 0.000 description 1
- 108010045758 lysosomal proteins Proteins 0.000 description 1
- 230000014759 maintenance of location Effects 0.000 description 1
- 238000011418 maintenance treatment Methods 0.000 description 1
- 210000004962 mammalian cell Anatomy 0.000 description 1
- 238000007726 management method Methods 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 230000004060 metabolic process Effects 0.000 description 1
- 239000002207 metabolite Substances 0.000 description 1
- 229910052751 metal Inorganic materials 0.000 description 1
- 239000002184 metal Substances 0.000 description 1
- 230000009456 molecular mechanism Effects 0.000 description 1
- 230000004973 motor coordination Effects 0.000 description 1
- XSENLDLUMVYRET-BTQNPOSSSA-N n-[(2r)-2-hydroxy-3-piperidin-1-ylpropoxy]-1-oxidopyridin-1-ium-3-carboximidoyl chloride;2-hydroxypropane-1,2,3-tricarboxylic acid Chemical class OC(=O)CC(O)(C(O)=O)CC(O)=O.C([C@H](O)CN1CCCCC1)ON=C(Cl)C1=CC=C[N+]([O-])=C1 XSENLDLUMVYRET-BTQNPOSSSA-N 0.000 description 1
- 201000003631 narcolepsy Diseases 0.000 description 1
- 201000009240 nasopharyngitis Diseases 0.000 description 1
- 208000015122 neurodegenerative disease Diseases 0.000 description 1
- 238000001584 occupational therapy Methods 0.000 description 1
- 230000004768 organ dysfunction Effects 0.000 description 1
- 230000008520 organization Effects 0.000 description 1
- 125000005489 p-toluenesulfonic acid group Chemical class 0.000 description 1
- IPCSVZSSVZVIGE-UHFFFAOYSA-N palmitic acid group Chemical group C(CCCCCCCCCCCCCCC)(=O)O IPCSVZSSVZVIGE-UHFFFAOYSA-N 0.000 description 1
- 230000009984 peri-natal effect Effects 0.000 description 1
- 239000000546 pharmaceutical excipient Substances 0.000 description 1
- 230000000144 pharmacologic effect Effects 0.000 description 1
- 238000000554 physical therapy Methods 0.000 description 1
- 125000000587 piperidin-1-yl group Chemical group [H]C1([H])N(*)C([H])([H])C([H])([H])C([H])([H])C1([H])[H] 0.000 description 1
- 238000002360 preparation method Methods 0.000 description 1
- 239000000651 prodrug Substances 0.000 description 1
- 229940002612 prodrug Drugs 0.000 description 1
- 208000020016 psychiatric disease Diseases 0.000 description 1
- 229940127558 rescue medication Drugs 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 230000000241 respiratory effect Effects 0.000 description 1
- 102220328849 rs1555637232 Human genes 0.000 description 1
- 102200040813 rs372947142 Human genes 0.000 description 1
- 102200041497 rs543206298 Human genes 0.000 description 1
- 102200041486 rs753768576 Human genes 0.000 description 1
- 102200040888 rs757475924 Human genes 0.000 description 1
- 102200041429 rs758902805 Human genes 0.000 description 1
- 102200041481 rs768999208 Human genes 0.000 description 1
- 102200040693 rs781065429 Human genes 0.000 description 1
- 102200041367 rs80358258 Human genes 0.000 description 1
- 238000012216 screening Methods 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 150000003384 small molecules Chemical class 0.000 description 1
- 229960002920 sorbitol Drugs 0.000 description 1
- 241000894007 species Species 0.000 description 1
- 238000002630 speech therapy Methods 0.000 description 1
- 150000003408 sphingolipids Chemical class 0.000 description 1
- WWUZIQQURGPMPG-KRWOKUGFSA-N sphingosine Chemical compound CCCCCCCCCCCCC\C=C\[C@@H](O)[C@@H](N)CO WWUZIQQURGPMPG-KRWOKUGFSA-N 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 239000011232 storage material Substances 0.000 description 1
- 238000009120 supportive therapy Methods 0.000 description 1
- 238000012353 t test Methods 0.000 description 1
- 231100001274 therapeutic index Toxicity 0.000 description 1
- 210000001519 tissue Anatomy 0.000 description 1
- 238000011200 topical administration Methods 0.000 description 1
- 230000000699 topical effect Effects 0.000 description 1
- 231100000331 toxic Toxicity 0.000 description 1
- 230000002588 toxic effect Effects 0.000 description 1
- 231100000419 toxicity Toxicity 0.000 description 1
- 230000001988 toxicity Effects 0.000 description 1
- 230000010474 transient expression Effects 0.000 description 1
- 238000011269 treatment regimen Methods 0.000 description 1
- 238000007492 two-way ANOVA Methods 0.000 description 1
- 210000001835 viscera Anatomy 0.000 description 1
- 230000008673 vomiting Effects 0.000 description 1
- 230000003442 weekly effect Effects 0.000 description 1
- 229940099072 zavesca Drugs 0.000 description 1
Classifications
-
- 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
- A61K31/444—Non condensed pyridines; Hydrogenated derivatives thereof containing further heterocyclic ring systems containing a six-membered ring with nitrogen as a ring heteroatom, e.g. amrinone
-
- 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
- A61K31/4412—Non condensed pyridines; Hydrogenated derivatives thereof having oxo groups directly attached to the heterocyclic 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
- A61K31/435—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
-
- 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
- A61K31/45—Non condensed piperidines, e.g. piperocaine having oxo groups directly attached to the heterocyclic ring, e.g. cycloheximide
-
- 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
- A61K31/4545—Non condensed piperidines, e.g. piperocaine containing further heterocyclic ring systems containing a six-membered ring with nitrogen as a ring hetero atom, e.g. pipamperone, anabasine
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- 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
-
- 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
- A61P3/00—Drugs for disorders of the metabolism
-
- 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
-
- 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
- A61K2300/00—Mixtures or combinations of active ingredients, wherein at least one active ingredient is fully defined in groups A61K31/00 - A61K41/00
-
- 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
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Medicinal Chemistry (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Organic Chemistry (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Epidemiology (AREA)
- Biomedical Technology (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- Obesity (AREA)
- Diabetes (AREA)
- Hematology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Psychiatry (AREA)
- Hospice & Palliative Care (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Analytical Chemistry (AREA)
- Physiology (AREA)
- Pathology (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Physics & Mathematics (AREA)
- Nutrition Science (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202063130438P | 2020-12-24 | 2020-12-24 | |
| EP21155579 | 2021-02-05 | ||
| US202163185111P | 2021-05-06 | 2021-05-06 | |
| PCT/EP2021/087483 WO2022136640A1 (en) | 2020-12-24 | 2021-12-23 | Arimoclomol for the treatment of niemann pick disease, type c, in patients with er type missense mutations |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| IL303968A true IL303968A (en) | 2023-08-01 |
Family
ID=79830856
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| IL303968A IL303968A (en) | 2020-12-24 | 2021-12-23 | Arimoclomol for the treatment of niemann pick disease, type c, in patients with er type missense mutations |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US20240115558A1 (https=) |
| EP (1) | EP4267139A1 (https=) |
| JP (1) | JP2024502304A (https=) |
| KR (1) | KR20230128037A (https=) |
| AU (1) | AU2021405780A1 (https=) |
| CA (1) | CA3205873A1 (https=) |
| IL (1) | IL303968A (https=) |
| MX (1) | MX2023007551A (https=) |
| WO (1) | WO2022136640A1 (https=) |
Families Citing this family (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU2023366474A1 (en) * | 2022-10-27 | 2025-05-15 | Zevra Denmark A/S | Arimoclomol compositions for use in treating niemann pick disease type c (npc) |
| WO2026010894A1 (en) * | 2024-06-30 | 2026-01-08 | Zevra Therapeutics, Inc. | Arimoclomol in combination with miglustat for use in the treatment of lysosomal storage disorders |
| US20260000661A1 (en) * | 2024-07-01 | 2026-01-01 | Zevra Therapeutics, Inc. | Use of arimoclomol in activating clear gene expression as treatment for lysosomal storage disorders |
| WO2026010893A1 (en) * | 2024-07-01 | 2026-01-08 | Zevra Therapeutics, Inc. | Arimoclomol in combination with miglustat for use in the treatment of lysosomal storage disorders such as niemann-pick disease, type-c |
Family Cites Families (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| HU222994B1 (hu) | 1995-11-02 | 2004-01-28 | BIOREX Kutató és Fejlesztő Rt. | Hidroxilaminszármazékok és azok alkalmazása sejtek molekuláris chaperon-termelésének fokozására alkalmas gyógyszerkészítmények előállítására |
| HUP9900475D0 (en) | 1999-02-26 | 1999-04-28 | Biorex Kutato Fejlesztoe Kft | O-(3-piperidino-2-hydroxy-1-propyl)-hiyroximic acid-halogenid derivative, it's use for treating insulin resistance, and pharmaceutical compositions containing them as active component |
| HUP0001583A2 (hu) | 2000-04-18 | 2002-11-28 | BIOREX Kutató és Fejlesztő Rt. | Egy piridin-1-oxid-származék és eljárás annak átalakítására gyógyászati hatású vegyületekké |
| RU2013125923A (ru) * | 2010-11-30 | 2015-01-10 | Орфазиме Апс | СПОСОБЫ УВЕЛИЧЕНИЯ ВНУТРИКЛЕТОЧНОЙ АКТИВНОСТИ Hsp70 |
-
2021
- 2021-12-23 WO PCT/EP2021/087483 patent/WO2022136640A1/en not_active Ceased
- 2021-12-23 CA CA3205873A patent/CA3205873A1/en active Pending
- 2021-12-23 MX MX2023007551A patent/MX2023007551A/es unknown
- 2021-12-23 EP EP21847473.2A patent/EP4267139A1/en active Pending
- 2021-12-23 US US18/267,591 patent/US20240115558A1/en active Pending
- 2021-12-23 JP JP2023539080A patent/JP2024502304A/ja active Pending
- 2021-12-23 KR KR1020237024972A patent/KR20230128037A/ko active Pending
- 2021-12-23 AU AU2021405780A patent/AU2021405780A1/en active Pending
- 2021-12-23 IL IL303968A patent/IL303968A/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| KR20230128037A (ko) | 2023-09-01 |
| WO2022136640A1 (en) | 2022-06-30 |
| US20240115558A1 (en) | 2024-04-11 |
| JP2024502304A (ja) | 2024-01-18 |
| CA3205873A1 (en) | 2022-06-30 |
| MX2023007551A (es) | 2023-09-04 |
| EP4267139A1 (en) | 2023-11-01 |
| AU2021405780A1 (en) | 2023-07-06 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| IL303969A (en) | ugh | |
| AU2023206175B2 (en) | Treatment of fabry disease in ert-naïve and ert-experienced patients | |
| IL303968A (en) | Arimoclomol for the treatment of niemann pick disease, type c, in patients with er type missense mutations | |
| US10064851B2 (en) | Method for the treatment of neurological disorders by enhancing the activity of β-glucocerebrosidase | |
| US20210401776A1 (en) | Method of treating refractory epilepsy syndromes using fenfluramine enantiomers | |
| AU2008245578A1 (en) | Dosing regimens for the treatment of lysosomal storage diseases using pharmacological chaperones | |
| TWI869336B (zh) | 經典型Fabry氏病患者之治療 | |
| KR20220150902A (ko) | 파브리 질병을 치료하는 방법 | |
| WO2019017938A1 (en) | TREATMENT OF FABRY'S DISEASE IN PATIENTS WITHOUT SUBSTITUTED ENZYMATIC THERAPY (TES) AND PATIENTS SUBJECT TO TES | |
| US20220211687A1 (en) | Use of arimoclomol in the treatment of niemann pick disease | |
| JP2023516753A (ja) | Ｇｌａ遺伝子の突然変異を有する患者におけるファブリー病を治療する方法 | |
| JP2022518733A (ja) | ファブリー病患者の脳血管事象のリスク低減におけるミガロスタットの使用 | |
| CN116916918A (zh) | 阿瑞洛莫用于治疗具有er型错义突变的患者的c型尼曼皮克病 | |
| US20240009180A1 (en) | Medicine for alleviating neuropathic pain | |
| WO2022094565A1 (en) | N-propargylglycine: a unique inhibitor of proline dehydrogenase with brain-enhancing mitohormesis properties capable of mitigating neurodegenerative disorders | |
| KR20220092026A (ko) | 니만 픽병의 치료에서의 아리모클로몰의 용도 | |
| AU2020294309A1 (en) | Use of arimoclomol in the treatment of niemann pick disease | |
| HK40110848A (en) | Treatment of fabry disease in ert-naive and ert-experienced patients | |
| HK40106068A (en) | Treatment of fabry disease in ert-naive and ert-experienced patients | |
| HK40112175A (en) | Treatment of fabry disease in ert-naive and ert-experienced patients | |
| HK40109071A (en) | Treatment of fabry disease in ert-naive and ert-experienced patients | |
| Zhang | Yaxuan Zhang, Yuan Yuan, Jiawei Zhang, Yao Zhao, Yueqi Zhang and Jianliang Fu | |
| AU2024271182A1 (en) | Hip/pap protein or a derivative thereof for treating a cognitive disorder associated with anxiety disorder | |
| WO2026010894A1 (en) | Arimoclomol in combination with miglustat for use in the treatment of lysosomal storage disorders | |
| WO2026010888A1 (en) | Use of arimoclomol in activating clear gene expression as treatment for lysosomal storage disorders |