About The pheEDIT Clinical Trial

Gene editing is a potential therapy for genetic diseases, which occur when a person’s own gene has a mutation that affects the normal biological function of the enzyme made from this gene. Specifically, gene editing is a technique in which a working copy of a gene is integrated into a person’s DNA in an effort to override the effect of the disease-causing gene, with the goal of preventing or potentially curing certain genetic diseases.

PKU is a rare inborn error of metabolism caused by mutations in the PAH gene, responsible for making the enzyme needed to break down phenylalanine (Phe) as it enters the body through diet. As a result, Phe accumulates to toxic levels in the blood causing the symptoms experienced by PKU patients. Currently, there are no approved treatments targeting the genetic cause of PKU. The standard of care treatment focuses on diet rather than the actual genetic cause of the disease.

The pheEDlT study is evaluating the safety and efficacy of an investigational gene editing therapy known as HMl-103 in adults with PKU due to phenylalanine hydroxylase (PAH) deficiency. HMl-103 is designed as a one-time administration to integrate a functional PAH gene into the genome using the natural DNA repair process of homologous recombination (HR) and to express the PAH enzyme in liver cells.

lf you’re interested in enrolling in a novel genetic research study for your PKU, consider participating in the pheEDlT study. You may be eligible to participate if you:

• Have uncontrolled classical PKU disease due to PAH deficiency
• Are an adult aged 18 to 55 years old
• 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 immunosuppressive therapy

There are additional study requirements to participate.