A new treatment approach for hereditary tyrosinemia type 1
Official title: PROJECT 2: HEREDITARY TYROSINEMIA TYPE 1 (HT1)
Funded at Children's Hosp of Philadelphia · NIH-10896261 · Data updated 2026-11-12
This study is exploring a new one-time treatment for hereditary tyrosinemia type 1 (HT1) that uses gene editing to help your body process tyrosine better, which could mean less need for medications or liver transplants in the future.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $1,630,863 |
| NIH project number | 5U19NS132301-02 |
| Project ID | NIH-10896261 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants and children diagnosed with hereditary tyrosinemia type 1.
✕Less likely to help
Patients with other metabolic disorders or those who do not have hereditary tyrosinemia type 1 may not benefit from this research.
What this research studies
This research investigates a novel treatment for hereditary tyrosinemia type 1 (HT1), a serious genetic liver disease. The approach involves using genome editing techniques to inactivate the HPD gene, which is crucial in the metabolism of tyrosine. The study aims to develop a one-time, lifelong treatment that could potentially eliminate the need for strict medication adherence or liver transplants. It includes both postnatal and prenatal treatment strategies, with plans to initiate clinical trials if initial results are promising.
Why it matters
Potential benefit: If successful, this research could provide a lifelong cure for patients with hereditary tyrosinemia type 1, significantly improving their quality of life.
How similar studies have gone: Other research has shown promise in using genome editing for metabolic disorders, indicating potential success for this novel approach.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Peranteau, William H. — Children's Hosp of Philadelphia
- Study coordinator: Peranteau, William H.
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.