Treatment of lysosomal storage disease in the eye through administration of aavs expressing tpp1
AssigneeThe Children's Hospital of Philadelphia
InventorsBeverly DAVIDSON, Luis TECEDOR
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Abstract
Provided are methods of treating the retinal dysfunction in a mammal with lysosomal storage disorder which method comprises sub-retinal administration of recombinant AAV particles encoding a soluble lysosomal tripeptidyl peptidase 1 (TPP1). In particular, the retinal dysfunction may be occurring in children with CLN2 deficiency receiving enzyme replacement therapy or gene therapy for their disease.
Claims31
A method of treating a mammal having a lysosomal storage disease (LSD) that causes vision loss, said method comprising sub-retinal administering to a mammal in need thereof a plurality of AAV particles, said AAV particles comprising (i) a nucleic acid inserted between a pair of AAV inverted terminal repeats (ITRs), said nucleic acid encoding (1) a soluble lysosomal tripeptidyl peptidase 1 (TPP1) polypeptide, (2) a fragment thereof, (3) a proenzyme of a TPP1 polypeptide or a fragment thereof, or (4) a combination of any of the foregoing;
- and (ii) an expression control element operably linked to and driving expression of said nucleic acid to yield a polypeptide having lysosomal hydrolase activity, wherein said AAV particles are capable of transducing cells of said mammal and providing expression of said polypeptide.
(canceled)
Dependencies are inferred from the claim text.