A new treatment approach for phenylketonuria (PKU).
LEAD PROJECT 1: PHENYLKETONURIA (PKU)
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 ID | NIH-10896260 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with phenylketonuria who carry the c.842C>T (P281L) mutation.
Not a fit: Patients with phenylketonuria who do not have the specific c.842C>T (P281L) mutation may not benefit from this research.
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 performed: 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
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Musunuru, Kiran — Children's Hosp of Philadelphia
- Study coordinator: Musunuru, Kiran
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.