08-08-2019 дата публикации
Номер: US20190240228A1
Принадлежит:
The present disclosure relates to 2,6-diaminopurine (DAP) for use in the treatment of a disease caused by a nonsense mutation in a gene, leading to the premature insertion of a UGA stop codon. 1. A method of treating a disease due to a nonsense mutation in a gene leading to the premature introduction of a UGA stop codon , comprising administering to a subject in need thereof a therapeutically effective amount of 2 ,6-diaminopurine (DAP).2. The method according to claim 1 , wherein said disease is selected from among cystic fibrosis due to said nonsense mutation claim 1 , muscular dystrophies due to said nonsense mutation claim 1 , beta-thalassemia due to said nonsense mutation claim 1 , retinitis pigmentosa due to said nonsense mutation claim 1 , mucopolysaccharidosis due to said nonsense mutation claim 1 , spinal muscular atrophy due to said nonsense mutation.3. The method according to claim 1 , wherein said DAP is administered to a subject in combination with a compound having a readthrough activity selected from the group consisting of 6-amino-5-nitro-4-(α-D-ribofuranosylamino)-pyrimidine claim 1 , 6-amino-5-nitro-4-(β-D-ribofuranosylamino)-pyrimidine claim 1 , ataluren claim 1 , gentamicin claim 1 , geneticin claim 1 , paromomycin and paromomycin derivatives such as NB30; NB54; NB74; NB84 claim 1 , amikacin claim 1 , tobramycin claim 1 , pyramycine and pyramycine derivatives such as TC001; TC003; TC007; TC032 claim 1 , kanamycin and kanamycin derivatives such as JL022; JL023 claim 1 , amlexanox claim 1 , RTC 13 (Lavin claim 1 , 2013) claim 1 , RTC 14 (Lavin claim 1 , 2013) claim 1 , 3-(2-4E(1 claim 1 ,1 dimethyl propyl)-phenoxy-acetylamino)-benzoic acid claim 1 , 3-(2-(4-isopropyl-3-methyl-phenoxy)-acetylamino)-benzoic acid claim 1 , negamycin claim 1 , tylosin claim 1 , josamycine claim 1 , spiramycin claim 1 , and 3-(2-(4-tert-butyl-phenoxy)-acetylamino)-benzoic acid.4. A pharmaceutical composition comprising DAP and a pharmaceutically-acceptable excipient for ...
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