Using gene editing to treat phenylketonuria
Official title: Corrective editing to treat phenylketonuria
Funded at University of Pennsylvania · NIH-11103130 · Data updated 2026-11-12
This study is exploring a new way to use gene editing to help people with phenylketonuria (PKU) by fixing the genetic issues that cause the condition, aiming to offer a better treatment than the current strict diets and medications.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 5, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $675,157 |
| NIH project number | 5R01HD110733-02 |
| Project ID | NIH-11103130 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with phenylketonuria, particularly those with specific mutations in the PAH gene, such as the R408W variant.
✕Less likely to help
Patients with phenylketonuria who do not have the targeted PAH gene mutations or those who are not eligible for gene editing therapies may not benefit from this research.
What this research studies
This research focuses on developing a gene editing approach to treat phenylketonuria (PKU), a genetic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. The project aims to address the limitations of current treatments, such as strict dietary restrictions and limited medication responses, by using advanced gene editing technologies to correct the underlying genetic mutations. By targeting specific variants of the PAH gene, the research seeks to provide a more effective and potentially curative treatment option for patients with PKU.
Why it matters
Potential benefit: If successful, this research could lead to a durable and possibly curative therapy for patients with phenylketonuria, improving their quality of life and cognitive outcomes.
How similar studies have gone: Other research has shown promise in using gene editing technologies for genetic disorders, indicating that this approach could be a viable option for treating phenylketonuria.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Wang, Xiao — University of Pennsylvania
- Study coordinator: Wang, Xiao
Related research
Other NIH-funded projects on the same topics.
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LNP-based adenine base editing for PKU and urea cycle disorders
A front-line, patient-focused research project aims to develop safe gene-editing therapies that could lessen or correct the biochemical problems in PKU and related urea cycle disorders.
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PKU: a new gene-editing treatment for a common PAH mutation
A new therapy using lipid nanoparticles to correct a common PKU mutation could reduce the need for strict diets and dangerous enzyme injections.
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A new gene-editing approach to treat phenylketonuria (PKU)
A medical research project is testing a gene-editing strategy using AAV-delivered CRISPR tools to correct PAH gene defects in PKU patients.
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Phenylalanine and brain function in PKU carriers and non-carriers
We’re exploring how a single elevated nutrient (phenylalanine) affects thinking and brain function in adults who carry a PKU gene variant compared with those who don’t.
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Gene-editing treatment for phenylketonuria caused by the P281L PAH mutation
A lipid nanoparticle-delivered adenine base editor to correct the P281L PAH mutation in people with phenylketonuria.
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Investigating how elevated phenylalanine affects brain and cognitive function in adults who carry the PKU gene.
This study is looking at how higher levels of phenylalanine (Phe) might affect thinking and brain function in adults who carry the PKU gene but don’t have the condition, to help us understand if they might face any challenges related to Phe.
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.