Compositions and methods for treating subjects having a heterozygous alanine-glyoxylate aminotransferase gene (agxt) variant
AssigneeAlnylam Pharmaceuticals, Inc.
InventorsAimee M. Deaton, David Erbe
Life of this patent
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Abstract
The present invention provides methods for treating subjects suffering from a kidney stone disease carrying a heterozygous AGXT gene variant, methods for identifying such subjects, and compositions comprising nucleic acid inhibitors, e.g., double stranded ribonucleic acid (dsRNA) agents or single stranded antisense polynucleotide agents targeting lactate dehydrogenase A (LDHA) and/or hydroxyacid oxidase (HAO1), for treating such subjects.
Claims38
A method for treating a subject suffering from a kidney stone disease, the method comprising
- determining the presence or absence of a heterozygous alanine-glyoxylate amino transferase (AGXT) gene variant in a sample obtained from the subject;
- and
- administering to the subject a therapeutically effective amount of a nucleic acid inhibitor of lactate dehydrogenase A (LDHA) and/or a nucleic acid inhibitor of hydroxyacid oxidase (HAO1), if a heterozygous AGXT gene variant is present in the sample obtained from the subject,
- thereby treating the subject suffering from a kidney stone formation disease.
A method of diagnosing and treating a kidney stone disease in a subject, the method comprising
- detecting the presence or absence of a heterozygous alanine-glyoxylate amino transferase (AGXT) gene variant in a sample obtained from the subject;
- diagnosing the subject with a kidney stone disease if a heterozygous AGXT gene variant is present in the sample obtained from the subject;
- and
- administering to the subject a therapeutically effective amount of a nucleic acid inhibitor of lactate dehydrogenase A (LDHA) and/or a nucleic acid inhibitor of hydroxyacid oxidase (HAO1),
- thereby treating the subject suffering from a kidney stone disease.
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A method for preventing a kidney stone disease in a subject prone to suffering from a kidney stone disease, the method comprising
- determining the presence or absence of a heterozygous alanine-glyoxylate amino transferase (AGXT) gene variant in a sample obtained from the subject;
- and
- administering to the subject a prohylactically effective amount of a nucleic acid inhibitor of lactate dehydrogenase A (LDHA) and/or a nucleic acid inhibitor of hydroxyacid oxidase (HAO1), if a heterozygous AGXT gene variant is present in the sample obtained from the subject,
- thereby preventing a kidney stone disease in the subject prone to suffering from a kidney stone disease.
A method of diagnosing and preventing a kidney stone disease in a subject prone to suffering from a kidney stone disease, the method comprising
- detecting the presence or absence of a heterozygous alanine-glyoxylate amino transferase (AGXT) gene variant in a sample obtained from the subject;
- diagnosing the subject with a kidney stone disease if a heterozygous AGXT gene variant is present in the sample obtained from the subject;
- and
- administering to the subject a prophylactically effective amount of a nucleic acid inhibitor of lactate dehydrogenase A (LDHA) and/or a nucleic acid inhibitor of hydroxyacid oxidase (HAO1),
- thereby diagnosing and preventing a kidney stone disease in a subject prone to suffering from a kidney stone disease.
Dependencies are inferred from the claim text.