Giuseppe N. Colasurdo, M.D. President at UT Health Houston | Official website
+ Pharmaceuticals
Patient Daily | Apr 24, 2024

UTHealth Houston Clinical Trial Allows Patient with Rare Genetic Disorder to Eat Regular Food

Andrea Price, a 37-year-old patient with a rare genetic metabolic disorder called phenylketonuria (PKU), is now able to eat regular food thanks to a new drug tested in a clinical trial at UTHealth Houston. Price shared her journey, expressing gratitude for the support she received over the years.

Diagnosed with PKU at just 9 days old, Price had been restricted to an extreme protein-restricted diet and a specific medical formula to manage the condition. Despite the challenges she faced, Price highlighted the importance of her family's support and the guidance she received from medical experts.

Hope Northrup, a PKU clinical expert and researcher at UTHealth Houston, played a significant role in Price's treatment journey. Northrup's dedication to finding innovative therapies for metabolic disorders like PKU led to the development of enzyme substitution therapy, which has shown promising results in clinical trials.

Northrup reflected on the impact of the new medication, stating, "One of my patients told me that this medication was life-changing. I sat at my desk and cried." The enzyme substitution therapy has enabled patients like Price to move away from strict dietary restrictions and experience a significant improvement in their quality of life.

Price, who participated in the clinical trial, shared her joy at being able to eat normally for the first time, emphasizing the freedom and newfound opportunities this medication has provided. She expressed her relief at no longer experiencing the cognitive effects of elevated phenylalanine levels in her blood.

With the approval of the medication by the Food and Drug Administration in 2018, Price has been able to resume treatment after successfully navigating two pregnancies. She now looks forward to enjoying family dinners without the burden of meticulous dietary planning, embracing a newfound sense of liberation in her ability to savor a variety of foods.

As Price savors her newfound freedom to indulge in a wider range of foods, she encapsulates her journey by stating, "Right now, I am eating liberally. I can go on Boy Scout campouts with my family and eat the same food. I feel like the world is my oyster — and I can eat oysters!"

Organizations in this story

More News