Viral vectors comprising RDH12 coding regions and methods of treating retinal dystrophies
AssigneeThe Regents of the University of Michigan
InventorsDebra A. Thompson, Robin R. Ali, Alexander J. Smith
Life of this patent
Estimating the term…
Abstract
Provided are compositions useful for treating an ophthalmological condition due to one or more loss-of-function mutations in the gene encoding the Retinol Dehydrogenase 12 (RDH12) protein. Provided herein are nucleic acids encoding a human RDH12 and vectors comprising an expressible coding region for human RDH12. Also provided are uses of such nucleic acids and vectors for treating ophthalmological disease, including, but not limited to Leber Congenital Amaurosis.
Claims12
A method of reducing or preventing accumulation of all-trans retinal in a human subject having Leber Congenital Amaurosis (LCA) due to one or more loss-of-function mutations in the gene encoding the human Retinol Dehydrogenase 12 (RDH12) protein, the method comprising administering into the subretinal space of at least one eye of the human subject an adeno-associated viral (AAV) vector comprising a nucleic acid, wherein:
- the nucleic acid encodes human RDH12 comprising the amino acid sequence set forth in SEQ ID NO:2;
- the AAV vector is AAV2/5;
- and
- the nucleic acid is under the expression control of a human rhodopsin kinase 1 (hGRK1) promoter;
- thereby reducing or preventing accumulation of all-trans retinal in the human subject.
Dependencies are inferred from the claim text.