Things to know: New insight into rare brain disease

DALLAS – April 24, 2017 – A new study and national clinical trials are changing notions about how to treat a rare brain disease that severely inhibits children’s intellect and ability to control their body.

Here’s a guide to Glut1 deficiency and the latest efforts at UT Southwestern’s Peter O’Donnell Jr. Brain Institute to help thousands of children in the U.S. affected by this epileptic disorder.

Brain-Starving Disease

Glut1 deficiency occurs when the brain is starved of glucose, a simple sugar that normally circulates from blood into the brain, providing a crucial energy source. Patients with this disease have a mutated gene that doesn’t properly produce the protein responsible for getting glucose into the brain.

Discovered in the early 1990s, the disease was often misdiagnosed for other conditions until a blood test was developed in recent years. About 40,000 people in the U.S., mostly children, are estimated to have Glut1 deficiency – up from about 500 cases in 2010.

A Lifetime of Dependence

Most patients experience slow growth in the brain and skull during infancy and early childhood. Symptoms include frequent seizures, difficulty controlling arms and legs, short attention spans, diminished IQ, and struggles with speech.

Although cases vary widely, most patients usually can’t learn beyond an elementary school level and often can’t live independently as adults.

Scientists believe the disease does not affect lifespan.

Treating Symptoms

With no known cure, Glut1 deficiency patients have tried to manage their symptoms with a high-fat, low-carbohydrate ketogenic diet that can limit seizures. The treatment works in about two-thirds of cases.

The diet does not improve patients’ intellect or body control, and carries long-term risks such as kidney stones and metabolic abnormalities. Still, it is commonly prescribed due to a lack of alternatives.

New Options

A new study from the O’Donnell Brain Institute shows a modified Atkins diet can be just as effective as the ketogenic diet in limiting seizures, without some of the health risks associated with the high-fat diet.

Published in JAMA Neurology, the study also showed that early diagnosis and treatment is the most important factor in determining the long-term health prognosis of patients.

Imminent Breakthrough?

The O’Donnell Brain Institute is now pioneering a treatment that preliminary research shows can limit patients’ seizures and improve their intellect.

The National Institutes of Health is funding a larger series of clinical trials at the Institute to establish whether an edible oil is a reliable remedy for the disease’s most devastating effects.

Triheptanoin (C7), an oil derived from castor beans, is designed to enter the liver and produce ketone bodies that pass into the brain and serve as an alternative energy source to glucose.

The first of three clinical trials will determine the maximum tolerated dose of C7, which will be added to patients’ pudding or yogurt. The next study will evaluate the oil’s effect on patients who are on a regular diet, and the final phase will focus on patients who combine C7 with a ketogenic diet.

The trials will last five years, involve nearly 100 patients, and cost about $3 million.

For more information on the trials, please send an Rare.Diseases@UTSouthwestern.edu.

About UT Southwestern Medical Center

UT Southwestern, one of the premier academic medical centers in the nation, integrates pioneering biomedical research with exceptional clinical care and education. The institution’s faculty has received six Nobel Prizes, and includes 22 members of the National Academy of Sciences, 18 members of the National Academy of Medicine, and 14 Howard Hughes Medical Institute Investigators. The faculty of more than 2,700 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UT Southwestern physicians provide care in about 80 specialties to more than 100,000 hospitalized patients, 600,000 emergency room cases, and oversee approximately 2.2 million outpatient visits a year.

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