JAMA Study & Planned Clinical Trials Offer Fresh Hope for Children with Rare Brain Disease (Glut1 Deficiency)

Anna Gunby can’t run around as smoothly as most 4-year-olds because her wobbly legs are affected by a rare brain disease that also hinders her intellect. She can’t identify colors. She can’t count objects. Her attention span is short. “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 newly published study led by investigators in the University of Texas (UT) Southwestern’s Peter O’Donnell Jr. Brain Institute has offered 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 that were 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.
Login Or Register To Read Full Story