Researchers conduct breakthrough research on childhood Alzheimer’s

(InvestigateTV) — Clemson University researchers believe they’re on the verge of a breakthrough treatment for Sanfilippo Syndrome, which is also known as childhood Alzheimer’s.

Currently, there is no cure, and most children away when they’re teenagers.

The research is funded by the Cure Sanfilippo Foundation.

“Eliza is an absolutely precious young lady now,” mother Cara O’Neill said.

“She is 15.”

Eliza was born with Sanfilippo syndrome and diagnosed at the age of three. Cara says it came as a shock.

“We knew she was having some developmental differences,” Cara said.

“She was diagnosed with autism and then we discovered the underlying cause of all of her difficulties.”

At birth, children with this syndrome appear healthy, but slowly they lose their ability to speak, walk, eat, and sleep. Experts say it’s often called childhood Alzheimer’s because the symptoms are similar and it mostly impacts the brain.

“It was difficult when we got the diagnosis, you are told your child is basically going to fade away and die in the next decade,” father Glenn O’Neill said. “It throws everything upside down, your entire life.”

The O’Neills decided to do everything in their power to change their daughter’s prognosis. It’s why they started this non-profit called the Cure Sanfilippo Foundation.

“We started it 11 years ago with just our family, and now 11 years later, we have 150 partner families around the country and the world,” Glenn said.

That allowed them to raise enough money to start funding studies, including one at Clemson University. Researchers are using fruit flies to test different treatment options. Trudy Mackay is the director of the Clemson Center for Human Genetics.

“This may be surprising to people, 70% of human disease genes have fruit fly counterparts,” Mackay said.

Mackay says children with Sanfilippo syndrome have too much build-up of heparan sulfate in the lysosome of a cell. This build-up causes damage to the brain.

“We know the cause, but what we don’t understand is why,” Mackay said.

Mackay says the cause is a lack of an enzyme, which is needed for healthy cells. Researchers have identified four drugs already on the market and are testing them to see if they work against Sanfilippo syndrome.

“They are approved for something else currently, but they are safe for children to take,” Mackay said.

Since they’re already on the market, researchers say this will save time and money. Robert Anhold is the Provost Distinguished Professor of Genetics at Clemson University.

“These days there is a realization that instead of starting from scratch, spending millions and millions of dollars and many years to get it to market, let’s look at these thousands of drugs we already have,” Anhold said.

“As we know Sanfilippo is fatal,” Cara said. “It’s a neurodegenerative disease and time is of the essence.”

The O’Neills don’t know if this research will save their daughter, but they know it will help others.

“What it has taught me is perspective about what really matters in life and when your child is diagnosed with a terminal disease literally nothing else matters,” Glenn said.

If these drugs prove to be promising in fruit flies, the next step is to test them in clinical trials in humans. The O’Neills hope that will happen at the Greenwood Genetic Center within the next few years.

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