Title:
GENE THERAPIES FOR STARGARDT DISEASE (ABCA4)
Document Type and Number:
WIPO Patent Application WO/2020/214809
Kind Code:
A3
Abstract:
Aspects of the disclosure relate to compositions and methods useful for delivering minigenes to a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g., a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a ABCA4 protein (e.g., the gene product of ABCA4 gene) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the ABCA4 gene, for example Stargardt disease.
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Inventors:
KHANNA HEMANT (US)
Application Number:
PCT/US2020/028504
Publication Date:
November 19, 2020
Filing Date:
April 16, 2020
Export Citation:
Assignee:
UNIV MASSACHUSETTS (US)
International Classes:
A61K48/00; C12N7/00; C12N15/86; C12N15/861
Domestic Patent References:
| WO2009134418A2 | 2009-11-05 |
Foreign References:
| US20070042462A1 | 2007-02-22 |
Other References:
SANGERMANO, R ET AL.: "ABCA4 Midigenes Reveal the Full Splice Spectrum of All Reported Noncanonical Splice Site Variants in Stargardt Diseas e", GENOME RESEARCH, vol. 28, 2018, pages 100 - 110, XP055538937, Retrieved from the Internet DOI: 10.1101/gr.226621.117
BAUWENS, M ET AL.: "ABCA4-Associated Disease As A Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-regulatory, Structural, and Recurrent Hypomorphic Variants", GENETICS IN MEDICINE, vol. 21, no. 8, 23 January 2019 (2019-01-23), pages 1761, XP036851953, DOI: 10.1038/s41436-018-0420-y
SCHULZ, HL ET AL.: "Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From A Multicenter German Cohort - Impact of Selected Deep Intronic Variants and Common SNPs", INVEST OPHTHALMOL VIS SCI, vol. 58, January 2017 (2017-01-01), pages 394 - 403, XP055487125, ISSN: 1552-5783, DOI: 10.11671 iovs.16-19936
SANGERMANO, R ET AL.: "ABCA4 Midigenes Reveal the Full Splice Spectrum of All Reported Noncanonical Splice Site Variants in Stargardt Disease", GENOME RESEARCH, vol. 28, 2018, pages 100 - 110, XP055538937, Retrieved from the Internet DOI: 10.1101/gr.226621.117
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences", PNAS, vol. 99, no. 26, 24 December 2002 (2002-12-24), pages 16899 - 16903, XP008125711, DOI: 10.1073/pnas.242603899
DATABASE GenBank NCBI; 19 September 2015 (2015-09-19), "ABCA4 variant protein [Homo sapiens", XP055761000, Database accession no. BAE06122.2
BAUWENS, M ET AL.: "ABCA4-Associated Disease As A Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-regulatory, Structural, and Recurrent Hypomorphic Variants", GENETICS IN MEDICINE, vol. 21, no. 8, 23 January 2019 (2019-01-23), pages 1761, XP036851953, DOI: 10.1038/s41436-018-0420-y
SCHULZ, HL ET AL.: "Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From A Multicenter German Cohort - Impact of Selected Deep Intronic Variants and Common SNPs", INVEST OPHTHALMOL VIS SCI, vol. 58, January 2017 (2017-01-01), pages 394 - 403, XP055487125, ISSN: 1552-5783, DOI: 10.11671 iovs.16-19936
SANGERMANO, R ET AL.: "ABCA4 Midigenes Reveal the Full Splice Spectrum of All Reported Noncanonical Splice Site Variants in Stargardt Disease", GENOME RESEARCH, vol. 28, 2018, pages 100 - 110, XP055538937, Retrieved from the Internet
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences", PNAS, vol. 99, no. 26, 24 December 2002 (2002-12-24), pages 16899 - 16903, XP008125711, DOI: 10.1073/pnas.242603899
DATABASE GenBank NCBI; 19 September 2015 (2015-09-19), "ABCA4 variant protein [Homo sapiens", XP055761000, Database accession no. BAE06122.2
Attorney, Agent or Firm:
MACDONALD, Kevin et al. (US)
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