Compositions and methods for treatment of disorders related to CEP290

Patent metadata

Field	Value
Publication number	US-10155794-B2
Application number	US-201414904447-A
Country	US
Kind code	B2
Filing date	Jul 11, 2014
Priority date	Jul 16, 2013
Publication date	Dec 18, 2018
Grant date	Dec 18, 2018

Abstract

Compositions are provided that comprise a recombinant vector carrying a nucleic acid sequence encoding a fragment of CEP290 lacking all or part of its N-terminal and C-terminal inhibitory regions, under the control of regulatory sequences which express the product of said gene in a selected cell of a mammalian subject, and a pharmaceutically acceptable carrier. These and other compositions are disclosed with are useful in methods for treating a mammalian subject having a disease associated with a CEP290 mutation, such as Lebers Congenital Amaurosis.

First claim

The invention claimed is:

1. A synthetic or recombinant nucleic acid sequence encoding a truncated CEP290 protein comprising discontinuous CEP290 amino acid fragments spliced together in a single open reading frame, said truncated CEP290 protein having biological activity that mimics the biological activity of normal full-length CEP290, wherein the truncated CEP290 protein comprises the amino acid sequence of SEQ ID NO: 6.

2. A synthetic or recombinant nucleic acid sequence encoding a truncated CEP290 protein comprising discontinuous CEP290 fragments spliced together in a single open reading frame, said truncated CEP290 protein having biological activity that mimics the biological activity of normal full-length CEP290, wherein the nucleic acid sequence comprises the nucleic acid sequence of SEQ ID NO: 5.

3. A synthetic or recombinant nucleic acid sequence encoding a truncated CEP290 protein comprising discontinuous CEP290 fragments spliced together in a single open reading frame, said truncated CEP290 protein having biological activity that mimics the biological activity of normal full-length CEP290, wherein the discontinuous CEP290 fragments comprise the amino acid sequence of SEQ ID NO: 49 and the amino acid sequence of SEQ ID NO: 53.

4. The synthetic or recombinant nucleic acid sequence of claim 3 , wherein the discontinuous CEP290 fragments further comprise the amino acid sequence of SEQ ID NO: 51.

5. The synthetic or recombinant nucleic acid sequence of claim 3 , wherein the discontinuous CEP290 fragments further comprise the amino acid sequence of SEQ ID NO: 52.

6. The synthetic or recombinant nucleic acid sequence of claim 3 , wherein the discontinuous CEP290 fragments further comprise the amino acid sequence of SEQ ID NO: 51 and the amino acid sequence of SEQ ID NO: 52.

Assignees

• Univ Pennsylvania

Inventors

• Drivas Theodore G
• Bennett Jean

Classifications

• C12Q2600/156

  Polymorphic or mutational markers · CPC title

• A61K38/00

  Medicinal preparations containing peptides (peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00) · CPC title

• C07K14/47 Primary

  from mammals · CPC title

• A61K48/00

  Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy · CPC title

• C12Q1/6883 Primary

  for diseases caused by alterations of genetic material · CPC title