Developing personalized gene therapies for liver disorders caused by genetic mutations
Official title: Personalized prime editing as a platform for hepatic inborn errors of metabolism
Funded at Children's Hosp of Philadelphia · NIH-11042329 · Data updated 2026-11-12
This study is exploring a new way to fix genetic problems in the liver that cause rare conditions like phenylketonuria (PKU), using a special technique to edit genes and help people with these disorders feel better.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 20, 2024 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $2,748,908 |
| NIH project number | 1U01TR005355-01 |
| Project ID | NIH-11042329 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with severe hepatic inborn errors of metabolism, particularly those with phenylketonuria or related conditions.
✕Less likely to help
Patients with non-genetic liver diseases or those whose conditions do not involve specific genetic mutations targeted by this therapy may not benefit.
What this research studies
This research focuses on creating personalized gene editing therapies to treat severe liver-related inborn errors of metabolism (IEMs), which are rare genetic disorders. By using a technique called prime editing, the researchers aim to correct specific genetic mutations that lead to these conditions. The approach involves delivering the gene-editing tools via adeno-associated viruses (AAVs) to the liver, where they can effectively target and modify the faulty genes. The initial focus will be on phenylketonuria (PKU), with plans to expand to other related disorders.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option for patients with severe liver disorders, potentially eliminating the need for liver transplants.
How similar studies have gone: Previous research has shown promise in using gene editing techniques for similar genetic disorders, indicating a potential for success in this novel approach.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Ahrens-Nicklas, Rebecca Clare — Children's Hosp of Philadelphia
- Study coordinator: Ahrens-Nicklas, Rebecca Clare
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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.