Stem cells offer hope for autism

Gracie Gregory smiles beneath her brilliant blue eyes. She’s sitting on her mother’s lap, next to her older sister, Ryleigh, who boasts about Gracie being “very sweet and kind.”

It wasn’t always so. Just a couple years ago, Ryleigh, 11, was scared of her sister when she’d throw tantrums and screaming fits.

“She would’ve fought and kicked,” Ryleigh says, noting that it wouldn’t have been possible to sit like this next to Gracie.

Why was she scared of her sister?

“Because of the kicking.”

Gracie, 7, interrupts: “I don’t even remember it.”

“We do,” says her mother, Gina Gregory.

Gracie has autism, a condition that affected nearly every aspect of her family’s life after she was diagnosed at 2. But a new study is offering hope for the Gregorys and families like them.

Gracie was one of 25 children who took part in the first-of-its-kind study at Duke University in Durham, North Carolina. The goal: to see whether a transfusion of their own umbilical cord blood containing rare stem cells could help treat their autism.

The results were impressive: More than two-thirds of the children showed reported improvements. A larger second trial is underway, one its researchers hope will lead to long-term treatment for children with autism.

Skeptics say there are too many unanswered questions to get excited. Even Duke researchers acknowledge as much. The initial trial, published Wednesday in the journal Stem Cells Translational Medicine, was a safety study, not a controlled, double-blind study with definitive proof of positive results. This study was open-label, meaning everyone – the doctors and the families – knew that the therapy was being administered.

But for the Gregorys, the change in their daughter has been monumental.

Gone are the days of Gracie throwing fits in long lines at Disney World or during dinner at restaurants. When a tantrum intruded on family outings, her mom and dad wished they had T-shirts that said “My kid has autism” to ward off judgmental stares.

During autism therapy sessions, Gracie would kick, scream, spit and hit at her occupational therapist. “It was horrible to try to get her to sit there,” her mother says.

Even just brushing her teeth or combing her hair could set her off.

Gracie, then 5, was on the mild to moderate autism scale, but her parents say the disorder consumed about 75% of their daily routine. After her participation in the study, that figure has been reduced to a mere 10%.

On a scale of 1 to 10, they rate her improvement around an 8 or 9; it’s been that dramatic. She’s even begun attending a “regular” school and thriving there, something her parents never thought possible. She’d been in various specialized school programs, and nothing was the proper fit.

Are Gracie’s changes a result of the cord blood transfusion stimulating her brain? Or did her brain just mature as she got older? Could it be that her parents were subconsciously determined to magnify her improvements, given all their family had been through?

Those are questions the Gregorys still ask. But they do know that their daughter’s transformation appeared to begin about six months after her transfusion in January 2015 and has continued ever since.

Her father’s favorite adjustment is her newfound affection. Instead of shunning hugs, she now welcomes an embrace.

“We will say we don’t think it’s cured her. You still see some of the small idiosyncrasies that she does have,” says her father, Wade Gregory. “But again, I think it’s supercharged her learning curve. It’s pushed her to do things she normally wouldn’t do.”

Her mother adds, “She got better, and we’re just thankful for that – whether it be the stem cells or not. We’re just thankful for what changes have happened.”

Billions of cells

Dr. Joanne Kurtzberg shows off a freezer deep inside the bowels of the Carolinas Cord Blood Bank at Duke University Medical Center. Known as a thermogenesis freezer, it stores up to 3,640 units of cord blood – left over from babies’ umbilical cords and placenta – at minus 196 degrees Celsius.

Each unit is designated by labels with specially designed adhesive to withstand extremely cold temperatures for decades. There are 14 cord blood freezers in all.

It is the cord blood in those freezers – stored or donated by parents in case a serious illness develops – that’s at the cutting edge of this research.

Kurtzberg, who heads the Robertson Clinical and Translational Cell Therapy Program, has teamed up with Dr. Geraldine Dawson, director of the Duke Center for Autism and Brain Development.

Both saw a great need for medical advances to help treat children with autism. An estimated one in every 68 children in America has some form of autism spectrum disorder, according to the Centers for Disease Control and Prevention.

About 30% never learn to speak, and many children even with early behavioral interventions still struggle to adapt. There also are no FDA-approved medications that improve the core symptoms of autism.

“I was very interested in collaborating with people here at Duke who could offer medical approaches that could enhance neuroplasticity, or the brain’s ability to respond to treatment,” Dawson says.

That’s where Kurtzberg comes in. Over the past two decades, she had seen children with inherited metabolic disorders be treated with cord blood after receiving high doses of chemotherapy.

“We’ve been able to show that with some of these diseases, a cord transplant rescues them from death and also improves their neurologic outcome,” she says.

She began wondering: Could cord blood help other children?

About a decade ago, her laboratory began clinical tests of children with cerebral palsy whose parents had banked their cord blood. Again, they saw positive results. And in some of those children who had autistic tendencies, they saw autistic symptoms improve. Another spark went off: What if they tested cord blood specifically for autism?

The safety trial began a little over a year and a half ago. Not only did it find cord blood to be safe, but 70% of the 25 children, age 2 to 6, had behavioral improvements as described by their parents and tracked by the Duke researchers. The research is largely funded by a $40 million donation from the Marcus Foundation, a nonprofit created by Home Depot co-founder Bernie Marcus.

The children traveled to Duke three times over the course of a year. They underwent a series of evaluations such as autism assessments, MRIs and EEGs to track their brain activity. On the first trip, the children received the cord blood infusion along with the intense evaluations. Each child received 1 billion to 2 billion cells, given through an IV in their arms or legs. At six months and then a year later, the children returned for more tests and observations.

“Some children, who were not speaking very much, had big increases in their vocabulary and their functional speech,” Kurtzberg says. “Many children were able to attend to play and have meaningful communication in a way that they weren’t before. Some children had less repetitive behaviors than they did when they came onto the study.”

Adds Dawson, “The study was very encouraging. We did see positive results. However, it did not have a comparison group, which is very important in establishing whether a treatment is actually effective.”

Both researchers can’t stress that enough: that although they’re cautiously optimistic about the results, they want the science to play out. They are now in the midst of the definitive trial on whether cord blood can treat autism – a double-blind, placebo-controlled trial involving 165 autistic children, ranging in age from 2 to 8. The FDA has oversight of the study.

During the phase II study, the children on their first visit receive a cord blood infusion – either their own or from a donor – or they get a placebo. They also undergo a battery of assessment tests and brain monitoring.

On their second visit six months later, the children receive a second infusion with whatever preparation they did not receive the first time and undergo more evaluations. The order of the infusions is not known. Researchers will monitor them for the next year for any sign of behavioral improvements.

It’s known as a crossover trial, in which each subject gets the treatment and the placebo but in a different order. Researchers say it would have been nearly impossible to find participants if parents knew that their children might not receive an infusion.