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All her life, everyday foods threatened her health. Then came a new drug, tested at USF.

Dr. Amarillis Sanchez-Valle of the USF Health Metabolic Clinic, right, examines Jennifer Mazorra, a patient in a drug trial that addresses the disease known as PKU. Mazorra, 35, says the new drug, Palynziq, has changed her life. [Courtesy of the USF Health]
Dr. Amarillis Sanchez-Valle of the USF Health Metabolic Clinic, right, examines Jennifer Mazorra, a patient in a drug trial that addresses the disease known as PKU. Mazorra, 35, says the new drug, Palynziq, has changed her life. [Courtesy of the USF Health]
Published Jun. 1, 2018

TAMPA — Jennifer Mazorra believed that childbirth was out of the question.

She had a disease known as PKU, short for Phenylketonuria, a genetic disorder that prevents the body from breaking down an amino acid found in high-protein foods and sweetened beverages. It put her at risk of developing mental and behavioral problems.

The 35-year-old nurse practitioner from Naples had lived a relatively normal life. But she had to maintain a strict, low-protein diet and get regular checkups. And if she wanted to become pregnant, her child would be at risk for several complications, from cognitive delays to congenital heart problems.

But Mazorra says a new drug tested at the University of South Florida has changed her life.

In May, the U.S. Food and Drug Administration approved Palynziq, a new injectable drug for adults with PKU that helps control concentrations of the amino acid phenylalanine in the blood.

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Mazorra's physician, Dr. Amarillis Sanchez-Valle of the USF Health Metabolic Clinic, was a lead researcher on a clinical trial that tested the drug. Patients came to the university from 14 counties across the state over the last several years.

The drug not only dropped Mazorra's protein counts to normal levels for the first time in her life and helped her feel healthier, but it also inspired her to get pregnant.

"I was born with PKU. They test for it on newborns in the heel test. It had a real impact on my parents while I was growing up, and it's something I've had to manage all my life," she said. "I was told it was too risky to have a baby."

The danger was not heredity. Both parents have to be carriers for the disease to be passed on, and Mazorra's husband does not have PKU. The risks were in the powerful cravings she would have during pregancy. Those foods would be way off limits.

But her son, Sebastian, is now eight months old and healthy. And, while taking the new drug, Mazorra gets to eat foods like peanut butter, which was forbidden along with fish, meat and eggs for so many years.

PKU affects one in 10,000 to 15,000 people in the U.S., according to the FDA. If untreated, it can cause chronic intellectual, developmental and psychiatric disabilities. Until now, lifelong dietary restriction was the main way to manage the disease, said Sanchez-Valle, an associate professor of pediatrics at USF who treats children and adults with inherited metabolic disorders.

"We never thought that someone with PKU would ever have normal phenylalanine ranges," she said. "It was mind-blowing to see that."

The Palynziq drug, developed by BioMarin Pharmaceutical Inc., is an injectible shot of an enzyme similar to phenylalanine that the body can break down more easily, Sanchez-Valle said.

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"It's a long process for patients to see results," she said. For Mazorra, it took a year and a half for her to start feeling the effects of the drug. But she said the results were significant: She feels less "brain fog" and her thoughts are more clear. Her mood is more stable. She has more energy.

Mazorra had tried another drug approved for use in PKU patients, a pill called Kuvan, which is considered a dietary supplement and can lower phenylalanine levels. However, the results vary between PKU patients. Mazorra said it didn't have much of an effect on her.

There are some side effects associated with Palynziq. Patients reported joint pain and sensitivity to the injection site, Sanchez-Valle said. Other reactions include headaches, skin irritations, nausea, dizziness, vomiting, cough and diarrhea. The most serious side effect was allergic reaction, which occurred most often during the first year of treatment.

But Mazorra said the reactions are worth it.

"My life is so much better with this drug than it was without it," she said.

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It was Sanchez-Valle and her team at USF who were the first to tell Mazorra that it wasn't impossible for her to carry her own children. With careful monitoring and the help of a metabolic dietician, she could do it. So Mazorra and her husband decided to try.

She had to forgo taking Palynziq during her pregnancy and had to stick to a strict diet again, carefully weighing her food, despite the cravings that came with pregnancy.

"It wasn't easy," she said. But she did it.

Six weeks after giving birth, she started taking Palynziq again.

"It's hard to know what the long-term effects of the drug could be, since it's so new. But as of right now, it makes my life better," she said.

Mazorra is part of a continuation study of Palynziq through USF. Sanchez-Valle is studying differing dosages and hopes to one day study the drug's effect on younger patients, perhaps teens, to track the long-term effects of PKU on the brain.

"This is a total paradigm shift in how we can treat PKU," Sanchez-Valle said. "It doesn't have to be a lifelong disease anymore. We can start thinking about a potential end point."

Contact Justine Griffin at jgriffin@tampabay.com or (727) 893-8467. Follow @SunBizGriffin.