Using gene editing to treat phenylketonuria
Corrective editing to treat phenylketonuria
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11103130
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11103130 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with phenylketonuria, particularly those with specific mutations in the PAH gene, such as the R408W variant.
Not a fit: 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.
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 performed: 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
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WANG, XIAO — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: WANG, XIAO
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.