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AssigneesThe Trustees of Columbia University in the City of New York, Fundació Hospital Universitari Vall D'Hebron—Institut De Recerca
InventorsMichio Hirano, Caterina Garone, Ramon Marti
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The invention relates generally to a pharmacological therapy for human genetic diseases, specifically those characterized by unbalance nucleotide pools, more specifically mitochondrial DNA depletion syndromes, and more specifically, thymidine kinase 2 (TK2) deficiency. The pharmacological therapy involves the administration of at least one deoxynucleoside, or mixtures thereof. For the treatment of TK2 deficiency, the pharmacological therapy involves the administration of either deoxythymidine (dT) or deoxycytidine (dC), or mixtures thereof. This administration of deoxynucleosides is applicable to other disorders of unbalanced nucleotide pools, especially those found in mitochondrial DNA depletion syndrome.
A method of treating thymidine kinase 2 (TK2) deficiency in a human subject in need thereof comprising administering to the subject a therapeutically effective amount of a composition comprising a mixture of deoxycytidine (dC) and deoxythymidine (dT), wherein the therapeutically effective amount is between about 100 mg/kg/day and about 1000 mg/kg/day of each deoxynucleoside in the composition.
A method of treating thymidine kinase 2 (TK2) deficiency in a human subject in need thereof comprising administering to the subject a therapeutically effective amount of a composition comprising a mixture of deoxycytidine (dC) and deoxythymidine (dT), wherein the therapeutically effective amount is between about 100 mg/kg/day and about 1000 mg/kg/day of the total deoxynucleoside in the composition.
Dependencies are inferred from the claim text.