New clinical trial evaluates gene editing therapy for adults with PKU

(BPT) – When someone has a genetic disease, it is lifelong and can have a daily impact on the person’s and their loved ones’ lives. Some rare diseases are genetic metabolic disorders, which require intense dietary management that adds significant daily burden and does not get easier with age.However, in the past few decades, research into gene editing has increased, and this type of genetic medicine has the potential to permanently correct a person’s DNA with a single administration, which could possibly eliminate the day-to-day toll of a genetic disease.Gene editing and phenylketonuria (PKU) Gene editing is a potential therapy for genetic diseases, which occur when a person’s own gene has a variant that disrupts the normal function of the enzyme made from this gene. 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.A unique characteristic of gene editing is that it is designed to be given to a patient just one time but to have long-term effects. One disease that could potentially be addressed with a gene editing approach is PKU, a rare, genetic metabolic disorder that affects nearly 16,500 people in the U.S. Each year ~300 newborns are diagnosed with this rare disease.PKU is caused by variants in the PAH gene and results in a non-functioning phenylalanine hydroxylase (PAH) enzyme. This enzyme is responsible for the metabolism of phenylalanine, or Phe, an amino acid that a person gets exclusively from diet. If left untreated, toxic levels of Phe can accumulate in the blood. Currently, there are no treatment options that target the underlying genetic cause of PKU, and the vast majority of patients are required to follow a life-long, difficult diet that is incredibly low in protein and includes medical foods.pheEDIT: A clinical trial for adults with PKU A clinical trial called pheEDIT is evaluating an investigational gene editing therapy for adults with PKU. It is designed to be given to the patient through a single intravenous (I.V.) administration with follow-up appointments with a physician to monitor the patient’s health.The pheEDIT trial is enrolling adults with PKU at clinical sites throughout the U.S. Candidates for pheEDIT include PKU patients who:Have uncontrolled classical PKU disease due to PAH deficiencyAre aged 18 to 55 years oldAre willing and able to maintain a stable Phe-restricted dietAre willing to commit to required study visits and tests for the duration of the trialThere are additional requirements to participate, which a doctor can explain. Does this sound like something you or someone you know would be interested in? If so, talk to your doctor, take this short questionnaire to see if you are a candidate for pheEDIT or consider sharing the information.