Clinical trials offer fresh hope for kids with rare brain disease

"But there's definitely hope," said Anna's mother, Courtney Gunby. "Maybe one day she'll be able to live on her own, operate a vehicle or go swimming by herself. There's hope that she could have some sense of normalcy to her life."

A study led by investigators in UT Southwestern's Peter O'Donnell Jr. Brain Institute offers novel insight into how a newly designed diet can help children like Anna cope with Glut1 deficiency -- a rare disease that severely inhibits learning and muscle control by starving the brain of glucose, its main energy source. And scientists are already beginning to expand on the findings published in JAMA Neurology by testing an edible oil that smaller studies indicate can improve cognitive abilities in patients.

Combining the new diet with the supplemental oil derived from castor beans could provide a life-changing treatment that trail blazes a brighter future for thousands of children in the U.S. who otherwise face a lifetime of stunted brain function.

Patients with Glut1 deficiency usually can't learn beyond an elementary school level and often can't live independently as adults.

"We're talking about helping people be independent from their parents. The question every parent asks is, 'Will my child be able to have an independent life when we're gone?' Right now it's very questionable whether they'll be able to achieve independence," said Dr. Juan Pascual, Associate Professor of Neurology and Neurotherapeutics, Pediatrics, and Physiology at UT Southwestern Medical Center.

Dr. Pascual led the JAMA study that relied on data from a worldwide registry he created in 2013 for Glut1 deficiency patients. The research tracked 181 patients for three years, finding that a modified Atkins diet that includes less fat and slightly more carbohydrates than the standard ketogenic diet helped reduce seizures and improved the patients' long-term health. The study also found earlier diagnosis and treatment of the disease improved their prognosis.

In addition, Dr. Pascual is overseeing national clinical trials that are testing whether triheptanoin (C7) oil improves the intellect of patients by providing their brains an alternative fuel to glucose. The trials will last five years and are funded with more than $3 million from the National Institutes of Health.