METHODS FOR TREATING METHYLMALONIC ACIDEMIA
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United States of America Patent
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Issued Date -
Nov 15, 2012
app pub date -
Dec 13, 2010
filing date -
Dec 11, 2009
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Abstract
Methods for treating methylmalonic acidemia in which at least one allele of a gene associated with MMA (e.g., the MUT, MMAA, or MMAB gene) contains a mutation (e.g., nonsense mutation) that results in a premature stop codon in RNA encoded by an allele of the gene associated with MMA involving the administration of a compound that promotes readthrough of RNA (e.g., messenger RNA) containing a premature stop codon encoded by an allele of the gene associated with MMA are described. The compound can be administered as a single-agent therapy or in combination with one or more additional therapies to a human in need of such treatment.
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