Purine derivative for use in the treatment or prevention of diseases caused by a nonsense mutation
AssigneesMuseum National D'Histoire Naturelle, Centre National De La Recherche Scientifique, Universite Lille 1 Sciences Et Technologies
InventorsSylvie Rebuffat, Christine Maulay-Bailly, Séverine Amand, Fabrice Lejeune
Life of this patent
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Abstract
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.
Claims7
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).
A pharmaceutical composition comprising DAP and a pharmaceutically-acceptable excipient for the treatment of a disease due to a nonsense mutation in a gene leading to the premature introduction of a UGA stop codon.
A pharmaceutical formulation comprising DAP and a compound having a readthrough activity selected from the group consisting of 6-amino-5-nitro-4-(α-D-ribofuranosylamino)-pyrimidine, 6-amino-5-nitro-4-(β-D-ribofuranosylamino)-pyrimidine ataluren, gentamicin, geneticin, paromomycin and paromomycin derivatives such as NB30;
- NB54;
- NB74;
- NB84, amikacin, tobramycin, pyramycine and pyramycine derivatives such as TC001;
- TC003;
- TC007;
- TC032, kanamycin and kanamycin derivatives such as JL022;
- JL023, amlexanox, RTC 13 (Lavin, 2013), RTC 14 (Lavin, 2013), 3-(2-4E(1,1 dimethyl propyl)-phenoxy-acetylamino)-benzoic acid, 3-(2-(-4-isopropyl-3-methyl-phenoxy)-acetylamino)-benzoic acid, negamycin, tylosin, josamycine, spiramycin, and 3-(2-(4-tert-butyl-phenoxy)-acetylamino)-benzoic acid, for the simultaneous, separate or sequential use thereof for the treatment of a disease due to a nonsense mutation of a gene leading to the premature introduction of a UGA stop codon.
Dependencies are inferred from the claim text.