Developing personalized gene therapies for liver disorders caused by genetic mutations
Personalized prime editing as a platform for hepatic inborn errors of metabolism
['FUNDING_U01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11223000
This study is looking at a new way to create personalized treatments for rare liver disorders caused by genetic issues, like phenylketonuria (PKU), to help patients avoid the need for liver transplants.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11223000 on ClinicalTrials.gov |
What this research studies
This research focuses on creating personalized prime-editing therapies for rare liver disorders known as inborn errors of metabolism (IEMs). These conditions arise from genetic mutations that affect the liver's ability to process certain substances, leading to harmful accumulations in the body. The approach involves using adeno-associated viral vectors to deliver specific gene-editing tools tailored to individual patients' genetic variants. By targeting conditions like phenylketonuria (PKU), the research aims to provide a new treatment option that could potentially replace the need for liver transplants.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with severe hepatic inborn errors of metabolism, particularly those with phenylketonuria or similar conditions.
Not a fit: Patients with non-hepatic metabolic disorders or those whose conditions do not involve genetic mutations affecting liver function may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could offer a groundbreaking treatment for patients with severe liver disorders, significantly improving their quality of life.
How similar studies have performed: Previous research has shown promise in using gene editing techniques for metabolic disorders, indicating potential success for this novel approach.
Where this research is happening
PHILADELPHIA, UNITED STATES
- 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
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.