The European Medicines Agency (EMA) recently published a press release in which the agency’s human medicines committee, known as CHMP, as recommended the authorization of a new treatment for a rare disease. The drug in question is called pegvaliase and is also known as Palynziq. If approved, it would be used to treat phenylketonuria in patients age sixteen or older.
Phenylketonuria 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 Pegvaliase (Palynziq)
Pegvaliase has already gained approval for treating adults with phenylketonuria in the US as of 2018. The drug has a unique mechanism of action that is driven by pegylated recombinant phenylalanine ammonia lyase. This is an enzyme that is capable of breaking down phenylalanine in the body, therefore reducing concentrations and providing symptom relief. Trial data indicates the long term use of pegvaliase can improve cognitive and psychiatric symptoms. The side effects of the drug were generally minor.
The recommendation from CHMP is another stepping stone in the path towards full approval for the treatment. The next step will be putting the recommendation to the European Commission. This body will ultimately decide if marketing authorization for pegvaliase throughout the EU is the final decision.