PKU is caused by mutations in the gene responsible for breaking down phenylalanine (Phe) as it enters the body through diet. As a result of the body’s inability to properly breakdown Phe, Phe accumulates to toxic levels in the blood causing the symptoms experienced by PKU patients. This investigational gene editing is designed to replace the variant gene in the liver with a functional gene enabling the body to properly breakdown Phe in the blood. As this is an investigational gene editing, this research may present risks that are not well-known or understood. Therefore, there may be unforeseeable risks associated with participating in this research.
The pheEDIT study is investigating the safety and efficacy of an investigational gene editing treatment known as HMI-103 in patients with PKU due to phenylalanine hydroxylase (PAH) deficiency. Currently, there are no approved treatments targeting the genetic cause of PKU. Most standard of care treatments focus on diets restricting Phe rather than the actual genetic cause of this condition.
If you’re interested in enrolling in a novel genetic research study for your PKU, consider participating in the pheEDIT study.
You may be eligible to participate if you:
- Have uncontrolled classical PKU disease due to PAH deficiency in which the PAH gene is not working properly
- Are an adult aged 18 to 55 years
- Are willing and able to maintain a stable Phe-restricted diet
- Are willing to commit to required study visits and tests for the duration of the trial
- Do not have contraindications to immunosuppressant therapy
There are additional study requirements to participate.
Refer a Friend
Do you know someone between the ages of 18-55 who has PKU? They may be eligible to participate in the pheEDIT study. Consider sharing information with them about how they can learn more.
