Growing up with a rare genetic disorder, Pam Kowalczyk often felt like no one truly understood her daily struggles. Years later, that sense of isolation changed in a life-altering way, when she ...

Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals' genetic ancestry. PKU causes an amino acid—called ...

What Is Sephience, and Why Does It Matter? Sephience (sepiapterin) is a new oral medication approved by the FDA to treat a rare inherited condition known as phenylketonuria (PKU) in adults and ...

Sephience (sepiapterin) is a prescription drug that’s used along with a special diet to help lower phenylalanine levels in adults and certain children with phenylketonuria (PKU). Sephience comes as an ...

The U.S. Food and Drug Administration has approved Sephience (sepiapterin), an oral therapy by PTC Therapeutics, for the treatment of phenylketonuria (PKU), a rare inherited metabolic disorder that ...

A Prescription Drug User Fee Act target date of February 28, 2026 has been set for the application. The Food and Drug Administration (FDA) has accepted for Priority Review the supplemental Biologics ...