PKU drug Sephience receives orphan drug designation in KOR

Gains attention as a drug for treating hyperphenylalaninemia (HPA) in patients with phenylketonuria (PKU)

Receives final approval in Europe… demonstrates efficacy in APHENITY trial

Sephience, a new drug for phenylketonuria (PKU), a rare metabolic disorder, has been designated as an orphan drug in Korea.

 

The Ministry of Food and Drug Safety recently announced so through a public notice.

 

Specifically, the drug is indicated for the treatment of hyperphenylalaninaemia (HPA) in adult and pediatric patients with phenylketonuria (PKU).

 

Sephience (sepiapterin), which was developed by U.S.

 

biopharmaceutical company PTC Therapeutics, recently received marketing authorization from the European Commission and is currently undergoing approval procedures with the U.S.

 

FDA.

 

More specifically, the drug is an oral formulation of tetrahydrobiopterin, a critical enzyme cofactor involved in the metabolism of various biological substances.

 

Tetrahydrobiopterin is known to reduce phenylalanine levels in the blood of patients with phenylketonuria.

 

The efficacy of Sephience was confirmed in the Phase III APHENITY trial.

 

In the trial, the phenylalanine levels in the sepiapterin arm decreased by an average of 63%.

 

In detail, 84% of patients achieved phenylalanine levels below 360 µmol/L, which is the target level according to treatment guidelines, and the majority of participants successfully controlled their levels.

 

Meanwhile, phenylketonuria is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme that breaks down phenylalanine, which is present in proteins at levels of 2% to 5%.

 

This deficiency leads to seizures and developmental disorders.

 

Patients born with this congenital deficiency of the enzyme are known to have congenital impairments compared to the general population, resulting in intellectual disabilities, light brown skin and hair, and seizures.

 

Early diagnosis and treatment during infancy are essential, and patients are required to follow a lifelong diet restricted in phenylalanine.

 

If left untreated, elevated phenylalanine levels in the blood can lead to hyperphenylalaninemia, causing severe damage to the brain, liver, heart, and kidneys over time.