Twins with Batten disease benefit from UNC Health drug trial
Therapy designed to mask the girls’ affected genes helps Amelia and Makenzie Kahn deal with the rare neurological condition.
Growing up in Phoenix, little Amelia and Makenzie Kahn liked to twirl Hula-Hoops and play with their dog. Then in elementary school, they began to have trouble reading or seeing the board in class.
In 2017, a month before the twins turned 7, genetic testing confirmed they both had Batten disease.
The rare and fatal genetic condition, which affects only three out of 100,000 children in the United States, causes the nervous system to break down over time. As the disease progresses, patients deal with vision loss, seizures and a decline in motor functioning. Care is focused on treating its symptoms rather than the disease itself.
But at UNC Health, Amelia and Makenzie, now 16, are participating in a personalized clinical trial of a drug that hopes to slow the disease’s progression and expand treatment for others with Batten disease. The trial is led by pediatric neurologist Dr. Yael Shiloh-Malawsky, neurology professor in the UNC School of Medicine.
Support for the trial comes from the ForeBatten Foundation, founded by the twins’ parents, David and Karen Kahn, to focus on spreading awareness about Batten disease and funding research.
Makenzie horseback riding prior to (left photo) and while (right photo) undergoing treatment.(Submitted photo)
Move to Chapel Hill
When the twins approached middle school and their condition worsened, the Kahns decided to make some changes. They needed a more accessible house and to be closer to family members and far from reminders of a harrowing past.
“We lived in an amazing family-friendly neighborhood, but as our family was declining, we were constantly reminded that our family was declining,” said David Kahn. “I couldn’t be surrounded by that anymore.”
Another reason for the 2022 move to Chapel Hill was the ability of a university health system to take on their daughters’ care. The goal — at Phoenix Children’s, where the girls were previously treated, and at UNC Health — had always been to manage Amelia and Makenzie’s symptoms. Gene therapy, which the Kahns banked on for some time, was not an option for the twins’ specific mutation.
The clinical trial the twins are part of centers on the drug Zebronkysen, developed by Michelle Hastings, a pharmacology and medicinal chemistry professor at the University of Michigan. Amelia and Makenzie received their first dose in June 2024 and continue to get the treatment once every three months.
The drug is designed to mask the girls’ affected genes.
“Remember old-school Christmas lights? When one bulb went out, the entire strand went dark. Now if one bulb goes out, just that one light is out — the rest stay lit,” said Karen Kahn. “That’s essentially what this therapy does. It helps the gene skip over the broken part so it can still work… even if not perfectly.”
The treatment has come with unexpected victories for the Kahn family. Since Makenzie began receiving treatment, she’s been able to sit upright without a spotter’s help when riding a horse. Amelia, who hasn’t taken food by mouth in years, has begun to nibble on ice cream.
Their mother’s most recent birthday marked another victory, with the treatment helping to alleviate some of their sensory sensitivities. This year, the twins were able to celebrate their mother’s birthday in a noisy restaurant full of people, Shiloh-Malawsky said.
The text the doctor received from Karen Kahn about the party said it all: “I couldn’t have hoped for a better birthday present.”
