Treatment and detection of inherited neuropathies and associated disorders
AssigneesUniversity of Miami, University of Rochester, UCL Business PLC
InventorsStephan L. ZUCHNER, Adriana REBELO, Andrea CORTESE, Rong Grace ZHAI, David N. HERRMANN
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Abstract
The present disclosure relates to methods of detecting and treating inherited neuropathy.
Claims10
A method of treating inherited neuropathy in a mammalian subject, the method comprising:
- (a) detecting the presence of a mutation in the sorbitol dehydrogenase (SORD) gene in a sample from the subject;
- and
- (b) administering to the subject a polynucleotide that encodes a SORD peptide, an aldose reductase antisense oligonucleotide, an agent that blocks expression of a mutant SORD gene, an agent that corrects the mutation in SORD gene, or a combination of any of the foregoing.
A method of treating inherited neuropathy in a mammalian subject, the method comprising:
- (a) detecting the presence of a mutation in the sorbitol dehydrogenase (SORD) gene in a sample from the subject;
- and
- (b) administering to the subject Alrestatin, Epalrestat, Diepalrestat, Fidarestat, Imirestat, Lidorestat, Minalrestat, Ponalrestat, Ranirestat, Salfredin B11, Sorbinil, Tolrestat, Zenarestat, or Zopolrestat.
A method of treating inherited neuropathy in a mammalian subject, the method comprising:
- (a) detecting the presence of a mutation in the sorbitol dehydrogenase (SORD) gene in a sample from the subject;
- and
- (b) administering to the subject a SORD peptide.
A method of characterizing a neuropathy in a mammalian subject, the method comprising measuring the level of sorbitol in a subject suffering from a neuropathy, wherein a sorbitol level of greater than about 10 g/L indicates that the neuropathy is associated with a mutation in the sorbitol dehydrogenase (SORD) gene.
A method of evaluating the efficacy of a treatment for an inherited neuropathy in a subject, the method comprising
- administering to the subject an agent selected from the group consisting of an aldose reductase inhibitor, an aldose reductase antisense oligonucleotide, a polynucleotide that encodes a SORD peptide, a SORD peptide, an agent that blocks expression of a mutant SORD gene, and an agent that corrects the mutation in SORD gene, or a combination of any of the foregoing;
- and
- measuring the level of sorbitol in a subject.
Dependencies are inferred from the claim text.