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When the first symptoms of Batten disease appear, a child’s vision begins to decline.

Seizures may begin soon after, followed by clumsiness, slowed development, and degenerated motor skills.

Batten’s disease is a horrible disease that systematically destroys the nervous system, usually in children. Eventually, the sick are left blind and bedridden. Typically, the disease is fatal in the late teens or early twenties.

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

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

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

Nathan and PJ both benefited from the therapy. The life expectancy of children diagnosed with Batten disease in late childhood is 10 to 12 years; Nathan turns 23 later this month.

The therapy Miltos received is different from this newly approved drug.

The new therapy, called Brineura, is an enzyme replacement therapy developed by California-based BioMarin Pharmaceuticals. The treatment is for patients with the late childhood form of Batten disease, in which symptoms begin to appear between the ages of 2 and 4.

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

“The approval of this first drug for the treatment of this form of Batten disease is an important step forward for patients suffering from this disease,” she said in a statement.

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

“A father who helped make that dream of FDA approval a reality said at a meeting, ‘Our families are swimming in a sea of ​​despair with this disease, and we need a lifeboat .’ I believe this particular treatment is a lifeline for them,” she said.

Batten disease is a genetic condition known as lysosomal storage disorder. Genetic mutations disrupt cells’ ability to eliminate waste; in Batten disease, the cells are out of balance with the accumulation of protein and fat.

Children who have grown and acted normally may see their health deteriorate rapidly with increasing seizures, personality and behavior changes, dementia, and loss of the ability to walk, talk, and communicate.

“All of a sudden they have an unprovoked seizure, and start to lose a few words and become clumsy. Parents start looking for answers, and it can be years before they’re diagnosed. At this point There, these kids have lost the ability to walk, talk and communicate and they’re being fed through a feeding tube,” Frazier said. “It’s devastating to watch.”

The condition is rare, occurring in only about 2 to 4 in every 100,000 births in the United States, according to the National Institute of Neurological Disorders and Stroke.

Because it’s so rare, the research is in its infancy, Frazier said. Organizations such as the Batten Disease Support and Research Association work to generate the funds needed to study the disease, as well as provide 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 to move forward,” she said.

Children with the form of Batten’s disease who can be treated with the new drug lack the enzyme needed to remove waste from cells. Brineura provides them with a form of this enzyme, administered directly into the fluid surrounding the brain.

Clinical trials began on Brineura in 2013. The 22 pediatric patients chosen for the study – all aged at least 3 years old with symptoms of declining motor and language skills – received the treatment for 96 weeks.

The results of the trial showed that patients who received the treatment were much less likely to experience continued deterioration in nerve function.

Those given Brineura make even greater progress, Frazier said.

“Some of our parents report that they see gains in their children who go through the treatment. We have children who acquire new words, better movements, can participate in life,” she said. “When you put it all together, it can change the lives of entire families.”

Even with Brineura’s approval, there’s still a lot to be done to fight Batten’s disease. Two more human clinical trials are about to begin, with a third not far behind, to treat other forms of the disease, Frazier said.

The researchers also hope to build on the success of Brineura to make improvements in the treatment of late childhood Batten disease.

“It’s base camp, and we’re climbing a mountain for better and better treatment,” Frazier said.

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

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What is Batten disease?

One of about 50 diseases called lysosomal storage disorders, which means that genetic mutations disrupt cells’ ability to remove waste. With Batten disease, the cells are out of balance with the buildup of protein and fat.

How did you get it?

Batten disease is genetic. Affected children and adults inherit defective genes from both parents. The disease can take years to manifest, which is why the disease affects 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 by a blood or urine test, or a skin or tissue sample, to check for abnormalities. An electroencephalogram can reveal telltale patterns of electrical activity in the brain, and electrical studies of the eyes can find common eye problems in patients with Batten disease.

Want to know more?

For more information about Batten disease or to contribute to research, visit 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