A new treatment approach for phenylketonuria (PKU).
Official title: LEAD PROJECT 1: PHENYLKETONURIA (PKU)
Funded at Children's Hosp of Philadelphia · NIH-10896260 · Data updated 2026-11-12
This study is working on a new treatment for people with phenylketonuria (PKU) who have a specific gene mutation, aiming to make managing the condition easier and safer than current methods, and they hope to start testing it in patients soon.
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) | $1,419,953 |
| NIH project number | 5U19NS132301-02 |
| Project ID | NIH-10896260 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with phenylketonuria who carry the c.842C>T (P281L) mutation.
✕Less likely to help
Patients with phenylketonuria who do not have the specific c.842C>T (P281L) mutation may not benefit from this research.
What this research studies
This research focuses on developing a lipid nanoparticle-based treatment for phenylketonuria (PKU), a genetic disorder that leads to harmful levels of phenylalanine in the body. Specifically, it targets patients with the c.842C>T (P281L) mutation in the PAH gene, which is known to be treatable through adenine base editing. The study aims to overcome the limitations of current treatments, such as strict dietary restrictions and injectable therapies that carry risks of severe allergic reactions. By the end of the funding period, the researchers plan to file an Investigational New Drug (IND) application and initiate a clinical trial to evaluate the safety and efficacy of this new treatment.
Why it matters
Potential benefit: If successful, this research could provide a more effective and safer treatment option for patients with PKU, reducing reliance on restrictive diets and injectable therapies.
How similar studies have gone: Previous research has shown promise in using gene editing techniques for genetic 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: Musunuru, Kiran — Children's Hosp of Philadelphia
- Study coordinator: Musunuru, Kiran
Related research
Other NIH-funded projects on the same topics.
-
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.
-
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.
-
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.
-
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.
-
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.
-
Using gene editing to treat phenylketonuria
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.
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.