Phase 1/2 Trial for an Experimental Phenylketonuria Gene Therapy Has Begun Enrollment

According to a story from, the genetic medicines company Homology Medicines, Inc. has recently announced that it has opened enrollment for its phase 1/2 clinical trial. This clinical trial will test the company’s investigational product candidate HMI-102, a single dose gene therapy being developed to treat the rare disorder phenylketonuria (PKU). Homology is committed to developing therapies that address the underlying cause of genetic diseases with severe unmet medical need.

About Phenylketonuria (PKU)

Phenylketonuria (PKU) is a type of metabolic disorder affecting the enzyme phenylalanine, which builds up in the body and can cause serious problems. Normally, phenylalanine is broken down, but a mutation affecting the PAH prevents this from happening in patients with the disorder. Prompt treatment is essential to avoid major complications. Symptoms of phenylketonuria include small head size, low birth weight, an unusual musty odor, pale skin, behavioral problems, intellectual disability, heart issues, seizures, and mental disorders. All of these symptoms can be prevented with proper and timely treatment; phenylketonuria is routinely screened for in newborns for this reason. The primary management strategy is a highly controlled diet that is low in phenylalanine. Supplements may also be considered. Most patients eventually go off the diet when they reach adulthood. Some older patients may still have trouble managing the condition later in life. To learn more about phenylketonuria, click here.

About The Clinical Trial

The clinical trial will be a randomized and controlled study that will test escalating doses of HMI-102. The trial expects to enroll a total of 21 patients with the “classic” form of phenylketonuria. These patients will be adults that range in age from 18-55 years. The study will monitor safety characteristics of the treatment as well as changes in serum Phe levels. The company is expecting to have initial data from the trial by the end of the year.

About HMI-102

HMI-102 is making history as the first gene therapy for phenylketonuria to enter clinical trials. If successful, the therapy could be a huge game changer for patients living with this metabolic disorder. HMI-102 has earned orphan designation in both the US and EU as well as Fast Track designation in the US.

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