Company Gears Up to Test a Gene Therapy for Phenylketonuria

According to a story from BioSpace, the biotechnology company BioMarin Pharmaceutical Inc. has recently announced its submission of a clinical trial application with the UK’s Medicines and Healthcare Products Regulatory Agency (MHRA). This application is in regards to the company’s investigational gene therapy candidate BMN 307, which is being developed to treat the rare disorder phenylketonuria (PKU). BioMarin hopes to begin enrollment for a phase 1/2 clinical trial in early 2020. The exact nature of this study is still in development, but it would test the effectiveness of a single dose of the gene therapy in patients and would consist of dose escalation, dose expansion, and observational phases.

About Phenylketonuria

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 BMN 307

BMN 307 is designed with the intention to bring down blood concentrations of Phe in patients with the disorder. Ideally, with a single dose, BMN 307 would restore regular metabolic processing of Phe, effectively curing a patient of the disease. The drug would represent the third therapy that the company has developed for the treatment of phenylketonuria. BioMarin has been the world leader in the development of treatments for this disorder and the completion of an effective gene therapy would be a decisive improvement over its previous therapies.


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