Department of Molecular and Medical Genetics celebrates FDA approval of PKU drug

July 30, 2018

On Friday, July 20, the Department of Molecular and Medical Genetics celebrated the work of Cary Harding, M.D., professor of molecular and medical genetics, OHSU School of Medicine, and his team, for an outcome 20 years in the making: FDA approval of the first-of-its-kind enzyme therapy, Palynziq, to treat the rare metabolic disorder PKU or phenylketonuria.

The treatment was developed in part through a clinical trial led by Dr. Harding.

"This is a lovely moment for us," said Susan Hayflick, M.D., chair and professor of molecular and medical genetics, OHSU School of Medicine, in her introductory remarks. "It's part of the story of success that this department and OHSU is known for. And it's not the end of the story for PKU treatments by any stretch. Dr. Harding is a passionate pediatric geneticist whose research is still on the rise."

PKU blocks the body from breaking down the amino acid phenylalanine, or Phe, in protein-containing foods. The diagnosis requires strict adherence to a protein-free diet to prevent the buildup of Phe in the body, which can cause long-term damage to the central nervous system. Palynziq is a daily injectable drug that replaces the enzyme needed to breakdown Phe.

Dr. Harding gave a presentation about the drug's development, from the first preclinical finding 20 years ago to an emotional description of how study participants testified to the FDA about the drug's impact on their lives.

One of those who had testified, Kristine Goertler, attended the celebration and spoke after Dr. Harding's presentation.

"I'm extremely excited that this day has come," she said, wiping away tears. "This drug has completely changed my life. I can eat anything. I don't have to be on disability. I won't be in a wheelchair one day. I'm no longer on antidepressants. I went to college and have a career now. I can live my life and be part of society. I'm excited this drug will be available to so many other people."

Dr. Harding said it was the largest clinical trial ever done on PKU. "I give the study subjects huge credit for stepping up and participating in this research," he said. "This is a milestone in PKU treatment. We now have a promising new therapy that we can offer to people living with PKU. Since news of this drug came out, we've gotten quite a few calls from PKU patients with whom we haven't been in touch for quite some time. They're eager to try this therapy. It's wonderful."

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Pictured top photo: (top to bottom) Dr. Susan Hayflick, Dr. Cary Harding, Kristine Goertler