Family helping fund research to cure debilitating illness

As the first symptoms of Batten disease appear, a child’s vision starts to fail.

Seizures may start soon after, followed by clumsiness, slowed development and degenerating motor skills.

Batten disease is a horrifying condition that systematically destroys the nervous system, typically in children. Eventually, sufferers are left blind and bedridden. Typically, the disease is fatal by the late teens or early 20s.

But medical researchers are making progress in the fight against this nightmarish condition. The first treatment for a type of Batten disease, aimed at halting the progression of the late-infantile form of the disease in patients 3 years old and older, was approved in April by the Food and Drug Administration.

One of the most vocal advocates for Batten disease research has been the Milto family from the Center Grove area. Phil and Tricia Milto have been battling the disorder since their son, Nathan, was diagnosed in 1998. Another son, PJ, was diagnosed with the disease in 2001.

Through Nathan’s Battle Foundation, a nonprofit that raises money for Batten research, the Miltos have helped organize leading researchers and fund their work in gene transfer therapies.

Both Nathan and P.J. have benefited from the therapy. The lifespan for children diagnosed with late-infantile Batten disease is 10 to 12 years old; Nathan turns 23 later this month.

The therapy the Miltos received is different than this newly approved drug.

The new therapy, called Brineura, is an enzyme replacement therapy developed by the California-based BioMarin Pharmaceuticals.The treatment is aimed at patients with the late-infantile form of Batten disease, in which symptoms start to show up between the ages of 2 and 4.

The Food and Drug Administration is vigilant about approving innovative therapies for patients with rare diseases, particularly when there are no approved treatment options, said Dr. Julie Beitz, a director in the FDA’s Center for Drug Evaluation and Research.

“Approving this first drug for the treatment of this form of Batten disease is an important advance for patients suffering with this condition,” she said in a statement.

This and advancements in other approaches to Batten disease, give hope to the families and patients who have been afflicted by it, said Margie Frazier, executive director of the Batten Disease Support and Research Association.

“A dad who helped make this dream of FDA approval a reality said at a meeting once, ‘Our families swim in a sea of despair with this disease, and we’re needing a lifeboat.’ I believe this particular treatment is a lifeboat for them,” she said.

Batten disease is a genetic illness that is known as a lysosomal storage disorder. Genetic mutations disrupt cells’ ability to dispose of wastes; in Batten disease, cells are thrown out of balance with the build-up of proteins and fats.

Children who have been growing and acting normally can have their health quickly deteriorate into increased seizures, personality and behavior changes, dementia and loss of the ability to walk, talk and communicate.

“All of the sudden, they have an unprovoked seizure, and start to lose some words and get clumsy. Parents start looking for answers, and it can be years before they’re diagnosed. By that time, these kids have lost the ability to walk and talk and communicate and they’re being fed by a feeding tube,” Frazier said. “It’s devastating to watch.”

The disease is rare, only occurring in approximately 2 to 4 of every 100,000 births in the U.S., according to the National Institute of Neurological Disorders and Stroke.

Because it is so rare, research is in its infancy, Frazier said. Organizations such as the Batten Disease Support and Research Association works to generate money needed for studies in the disease, as well as providing families with resources and advocacy.

“We have so far to go. There are 14 forms of Batten disease, and we need more and more research going forward,” she said.

Children with the form of Batten disease that can be treated with the new drug don’t have the enzyme necessary to clear out waste from the cells. Brineura provides them with a form of that enzyme, administered directly into the fluid surrounding the brain.

Clinical trials started on Brineura in 2013. The 22 pediatric patients chosen for the study — all at least 3 years old showing symptoms of declining motor and language skills — were given the therapy over the course of 96 weeks.

The results of the trial showed that patients who received the treatment were much less likely to show continued deterioration of their nervous functions.

Those who have been administered Brineura are making even greater strides, Frazier said.

“Some of our parents report that they are seeing gains in their kids that are on the treatment. We have kids gaining new words, better movement, being able to participate in life,” she said. “When you put that all together, it can be life-changing for whole families.”

Even with the approval of Brineura, much needs to be done to combat Batten disease. Two additional human clinical trials are close to starting, with a third not far behind, to treat other forms of the disease, Frazier said.

Researchers also hope to build off of the success of Brineura to make improvements treating late-infantile Batten disease.

“This is base camp, and we’re climbing a mountain to better and better treatment,” Frazier said.

“I couldn’t be more optimistic. For 30 years, we, along with family foundations like (Nathan’s Battle) have funded lots and lots of basic research over time that needed to happen. When you’re in year five or 10 of that, and you’re not seeing a treatment, that can be very discouraging for families,” Frazier said.

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What is Batten disease?

One of approximately 50 diseases called lysosomal storage disorders, meaning that genetic mutations disrupt the cells ability to dispose of wastes. With Batten disease, cells are thrown out of balance with the build-up of proteins and fats.

How do you get it?

Batten disease is genetic. Children and adults with it have inherited defective genes from both parents. The disease may take years to impact present itself, which is why the disease impacts people at different ages.

What are the symptoms?

  • Seizures
  • Visual impairment/blindness
  • Personality and behavior changes
  • Dementia
  • Loss of motor skills and the ability to walk, talk and communicate

How is it diagnosed?

Batten disease is diagnosed through a blood or urine test, or skin or tissue sampling, to detect abnormalities. An electroencephalogram may reveal telltale patterns of electrical activity in the brain, and electrical studies of the eyes can find eye problems common among Batten disease patients.

Want to know more?

For more information on Batten disease or to contribute to research, go to the Nathan’s Battle Foundation at or the Batten Disease Support and Research Association at

— Information from the Batten Disease Support and Research Association, and the National Institute of Neurological Disorders and Stroke