IRF2BPL-related disorders are a group of neurodegenerative disorders, characterized by abnormal movements, loss of speech, and seizures, and are caused by mutations within the IRF2BPL gene. Researchers at Nationwide Children’s have devised a gene therapy approach that uses adeno-associated viruses together with specific promoters to mediate the transfer of a functional gene in affected individuals. This approach ensures the restoration of the IRF2BPL protein which then leads to a drastic health improvement in patients.

This Intellectual Property contains several products:
- AAV vectors containing the IRF2BPL gene under the control of different promoters.
- AAV vectors containing only the IRF2BPL coding sequence under the control of different promoters.

The AAV.IRF2BPL gene transfer tested in this intellectual property is a new approach for IRF2BPL related disorders. It includes the IRF2BPL gene or its coding sequence under the control of different promoter to express IRF2BPL. These approaches were never explored for IRF2BPL related diseases.

Stage of Development

Proof of principle: Designed IRF2BPL sequences that force expression of human IRF2BPL gene. We also developed several in vitro assays to study the disease and the therapeutic vectors. We reprogrammed patient cell lines and made neuronal progenitor cells (NPCs) and astrocytes.

Future Work:

1. We intend to evaluate the effect of patient mutations on the expression level of IRF2BPL protein.
2. We intend to use patient cells to test if AAV.IRF2BPL approaches allow restoration of a WT IRF2BPL protein following treatment with each AAV in vitro.
3. We intend to inject the most promising constructs into mice.
4. We will also inject the constructs in wild type mice to evaluate safety

Potential Applications/Markets:

These products will force expression of wild type IRF2BPL for any patients containing IRF2BPL related disorders. Therefore, this product has potential as a therapeutic.

Opportunity/Seeking:

Development Partner

Commercial Partner

Licensing

University Spin Out

Seeking Investment

IP Status:

Patent application submitted