Liver-directed gene delivery to restore clotting factor in hemophilia B and other inherited liver diseases
Hepatic gene transfer for the treatment of hemophilia B and other genetic diseases
This research uses a liver-targeted viral gene delivery approach to help adults with hemophilia B produce the missing clotting protein and could be applied to other inherited liver disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11257294 on NIH RePORTER |
What this research studies
Researchers are working with adeno-associated viral (AAV) vectors to insert a therapeutic gene next to the liver's albumin gene so that the liver can make both albumin and the therapeutic protein, such as factor IX. The team is improving a non-cutting (non-nuclease) AAV-homologous recombination method that previously corrected hemophilia B in mice but has low efficiency. They will use cell studies, animal models, and high-throughput sequencing to trace where therapeutic products come from and identify factors that increase correct insertion and reduce off-target integration. The work aims to boost durable protein production early in life and reduce loss of the therapeutic gene during liver growth.
Who could benefit from this research
Good fit: Adults with hemophilia B or other inherited liver metabolic disorders who meet clinical trial eligibility and are interested in gene-based approaches would be the most relevant candidates.
Not a fit: People with strong pre-existing immunity to AAV, severe liver damage, or very young children whose livers are still growing may not receive benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could provide longer-lasting production of clotting factor IX from a single liver-directed treatment, reducing bleeding episodes and treatment burden.
How similar studies have performed: AAV liver gene therapies have produced durable factor IX expression in some adult hemophilia B trials and the AAV-homologous recombination approach corrected disease in mouse models, though human efficiency remains limited.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Kay, Mark a — Stanford University
- Study coordinator: Kay, Mark a
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.