Methods for enhancing vascular density
US-2019328761-A1 · Oct 31, 2019 · US
Gene therapy for NMNAT1-associated retinal degeneration
US12257320B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-12257320-B2 |
| Application number | US-202117199115-A |
| Country | US |
| Kind code | B2 |
| Filing date | Mar 11, 2021 |
| Priority date | Mar 11, 2020 |
| Publication date | Mar 25, 2025 |
| Grant date | Mar 25, 2025 |
How to read this patent
A practical reading order for non-experts. Skip the full description unless you need deep technical detail.
- Title
What the patent document calls the invention.
- Abstract
A short plain-language summary of the technical disclosure.
- Assignees and inventors
Who owns or filed the patent and who is credited as inventor.
- Key dates
Filing, priority, publication, and grant dates set the timeline.
- First independent claim
The legal scope of protection — read this for what is actually claimed.
- CPC / IPC classifications
Technology tags used to group this patent with similar filings.
- Citations and related patents
Prior art links and similar publications in this corpus.
Abstract
Official abstract text for this publication.
Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1).
First claim
Opening claim text (preview).
What is claimed is: 1. A method of treating retinal degeneration caused by mutations in a nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) gene in a human subject, the method comprising delivering to an eye of the subject a therapeutically effective amount of an Adeno-associated virus 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promoter that drives expression in photoreceptors, wherein the sequence encoding the functional human NMNAT1 is at least 98% identical to SEQ ID NO: 1. 2. The method of claim 1 , wherein the sequence encoding the functional human NMNAT1 is codon optimized. 3. The method of claim 1 , wherein the vector is delivered via sub-retinal injection. 4. The method of claim 1 , wherein the vector is self-complementary AAV2/9 (scAAV2/9). 5. The method of claim 1 , wherein the sequence encoding the functional human NMNAT1 is at least 99% identical to SEQ ID NO: 1. 6. The method of claim 1 , wherein the sequence encoding the functional human NMNAT1 comprises SEQ ID NO:1. 7. The method of claim 1 , wherein the vector further comprises a 3′ bovine growth hormone untranslated region. 8. A method of increasing expression of NMNAT1 in photoreceptor cells in an eye of a human subject, the method comprising delivering to the eye of the subject a therapeutically effective amount of an Adeno-associated virus type 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promoter that drives expression in the photoreceptor cells, wherein the subject has retinal degeneration caused by a mutation in a nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) gene, wherein the sequence encoding the functional human NMNAT1 is at least 97% identical to SEQ ID NO: 1. 9. The method of claim 8 , wherein the vector is delivered via sub-retinal injection. 10. The method of claim 8 , wherein the vector is self-complementary AAV2/9 (scAAV2/9). 11. The method of claim 8 , wherein the sequence encoding the functional human NMNAT1 is at least 98% identical to SEQ ID NO:1. 12. The method of claim 8 , wherein the sequence encoding the functional human NMNAT1 is at least 99% identical to SEQ ID NO: 1. 13. The method of claim 8 , wherein the sequence encoding the functional human NMNAT1 comprises SEQ ID NO:1. 14. An Adeno-associated virus type 2/9 (AAV2/9) vector comprising a sequence encoding a functional human NMNAT1, operably linked to a CASI promotor that drives expression in photoreceptor cells, wherein the sequence encoding the functional human NMNAT1 is codon at least 98% identical to SEQ ID NO: 1. 15. The AAV2/9 vector of claim 14 , wherein the vector is a self-complementary AAV2/9 (scAAV2/9). 16. The AAV2/9 vector of claim 14 , wherein the sequence encoding the functional human NMNAT1 is at least 99% identical to SEQ ID NO:1. 17. The AAV2/9 vector of claim 14 , wherein the sequence encoding the functional human NMNAT1 comprises SEQ ID NO:1. 18. A pharmaceutical composition comprising the vector of claim 14 , formulated for delivery via sub-retinal injection.
Assignees
Inventors
Classifications
Eye, e.g. artificial tears · CPC title
Nicotinamide-nucleotide adenylyltransferase (2.7.7.1) · CPC title
- A61K38/45Primary
Transferases (2) · CPC title
characterised by an aspect of the delivery route, e.g. oral, subcutaneous · CPC title
Ophthalmic agents · CPC title
Patent family
Related publications grouped by family.
External sources
Frequently asked questions
Answers are generated from the same data shown on this page.
- What does patent US12257320B2 cover?
- Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1).
- Who is the assignee on this patent?
- Massachusetts Eye & Ear Infirmary
- What technology area does this patent fall under?
- Primary CPC classification A61K38/45. Mapped technology areas include Human Necessities.
- When was this patent published?
- Publication date Tue Mar 25 2025 00:00:00 GMT+0000 (Coordinated Universal Time) (B2). Legal status and post-grant events are not shown on this page.
- What related patents are in patentsdb?
- We list 3 related publications on this page (citations in our corpus or others sharing the same primary CPC).