Microbes for the mind

A team from ASU is bringing hope to families impacted by autism and Pitt-Hopkins syndrome

Mother and young daughter walking down the hall

Editor's note: This story originally appeared in the fall 2023 issue of ASU Thrive magazine.

A new treatment from ASU is helping people with autism and children with a rare disorder called Pitt-Hopkins syndrome, a genetic disease characterized by physical, intellectual and developmental delays.

In this first-ever, double-blind clinical trial, ASU researchers demonstrated that microbiota transplant therapy, which first uses antibiotics to eliminate bad bacteria from the intestines and then replaces it with healthy bacteria, reduces gastrointestinal symptoms and other symptoms in people with autism, as well as in children with Pitt-Hopkins.

To understand how the ASU team got to this point, you need to first go back 29 years, to when James Adams, now a professor and director of ASU’s Autism/Asperger’s Research Program, and his wife received the news that their daughter had severe autism.

A project is born 

For any parent, learning your child has a severe illness with no treatment can be shattering. This was the case for James Adams and his wife, Marie, when their daughter’s doctors informed them it was only a matter of time before she would require institutionalization. 

“We took it hard,” James says. 

Marie Adams began learning all she could and attended a conference on autism where researchers said that nutritional support could make a difference in quality of life for people with autism. 

“I was a skeptic,” admits James, “but I rapidly became a convert.” 

James began to read research into the relationship between autism and GI symptoms. One study found that antibiotic therapy could be helpful, albeit temporary.

“I realized that you could pull the weeds out of a garden, but the weeds come back,” he says. “I hypothesized that we needed to pull out the weeds with antibiotics, but then plant the garden with good bacteria.”

Recent research into the C. difficile bacteria and microbiota transplant treatment allowed Adams to have something of an epiphany — could the treatment work with autism? 

The possibility of a treatment not only mattered for his family, but for many others. Autism impacts one in 36 children in the U.S. and can present a host of difficult health, social and behavioral challenges, including gastrointestinal issues. Over 22% of people with autism deal with constipation, 13% with diarrhea and 46% report a variety of GI symptoms. 

Three people talk at table in lab

Kelley Hollie, research/lab aide; Professor James Adams; and staff member Austin Cronen at the Biodesign Center for Health Through Microbiomes. Photo by Sabira Madady

From the gut to the brain 

Research suggests there’s a direct link between the gut microbiome and brain health. Each person has a unique network of microbiota in their intestines, a mixture of good and bad bacteria.

The baby gut’s microbiome begins during the birthing process, and then soon after with the unique set of nutrients and microorganisms in a mother’s breast milk. The microbiome changes further still depending on environment and diet as children grow into adults.

And, according to research at ASU and around the world, the health of the gut affects brain health, too.

Collaborating for answers

At the same time as James was studying possibilities in this area, so was Professor Rosa Krajmalnik-Brown, director of the Biodesign Center for Health Through Microbiomes. Her microbiome work had already produced clinically significant results in other arenas. 

At that time, her past studies included a look at bariatric surgery and how it changes the microbiome, a collaborative effort with Mayo Clinic. 

“We were able to see significant differences with just a few patients,” she says. “I took our bariatric surgery paper published in the Proceedings of the National Academy of Sciences to Dr. Adams and told him, ‘I have the people, resources and know-how to study the microbiome in kids with autism, let’s work together.’” 

So the two ASU professors teamed up, and their joint effort began with a small pilot study to see if the microbiome in kids with autism was different from their peers. 

“We found a significant number were missing beneficial microbes in the autistic population, which gave us a really good justification to do a microbiota transplant study, adding beneficial microbes to increase diversity,” she explains. 

Adams and Krajmalnik-Brown hypothesized that by using microbiota transplant therapy, many of the GI symptoms and associated behavioral symptoms of autism might improve. 

Girl playing on the floor

Zoe Jay Hollie, a child with autism. She is the daughter of autism researcher Kelley Hollie. For many involved in this work at ASU, the search for treatments is personal. Photo by Sabira Madady

Significant results 

In 2017, beginning with 18 patients, Adams and Krajmalnik-Brown pretreated the participants’ guts with a specific antibiotic to rid them of harmful bacteria. Next, the participants underwent a bowel cleanse, followed by one to two days of a high dose of healthy microbiota from carefully screened donors, and finally, seven to eight weeks of daily microbiota. 

The results of the first study were impressive: Participants reported an 80% reduction in GI symptoms and initially a 23% reduction in autism symptoms, reaching nearly a 50% reduction at two years post-treatment. Their bacteria diversity increased from 25% below normal to normal initially and two years later too. 

“I realized that you could pull the weeds out of a garden, but the weeds come back. I hypothesized that we needed to pull out the weeds with antibiotics, but then  plant the garden with good

— James Adams, professor, Biodesign Center for Health Through Microbiomes

“At this point, the FDA granted us fast-track status for the treatment,” explains Adams, “and we moved on to Phase 2.”

This second phase was slated to begin in 2017 and look at 84 adults with autism. Originally a federally funded study, the pandemic intervened, delaying the research and slashing the funding. 

“We had over 1,000 families impacted by autism step up and donate to help us carry out our research,” says Adams. “We were eventually able to enroll more than 50 adult patients.”

Along with the studies with autism patients, the ASU team also studied microbiota transplant therapy for children with Pitt-Hopkins. Approximately 75% of people with Pitt-Hopkins deal with severe constipation, and about 30% suffer from gastroesophageal reflux — and many require repeat hospitalizations throughout their life. 

Because the treatment was only available in a pill form at the time of the study, just six children with the rare disorder could participate. But all six showed improvement. 

The son of Audrey Davidow Lapidus, president of the Pitt Hopkins Research Foundation, was one of the children with Pitt-Hopkins syndrome to receive the treatment. Lapidus says it was life-changing.

“In his 12 years, this was the first year my son enjoyed his birthday and Halloween as a result of not being in pain,” she says. “Other families saw improvement not only in GI symptoms, but in mood, behaviors and irritability.”

The results have been so promising that the team acquired the FDA’s orphan drug designation and rare pediatric disease designation for Pitt-Hopkins syndrome, and following a Phase 3 study, they hope to receive FDA drug approval for their treatment. 

Not only does the ASU team’s approach to the therapy stand out from predecessors because it is the first-ever treatment for Pitt-Hopkins, but also because it improves core autism symptoms. It works differently from other microbiota transplant therapy in that it first begins with antibiotic treatment, followed by a bowel cleanse, then a high dose of the transplant, then a 12-week regimen of biweekly maintenance microbiota.

To prove the case for the therapy and receive drug approval from the FDA, the ASU team needs to conduct a Phase 3 trial and has formed a new company, Gut-Brain Axis Therapeutics Inc., to raise funds for the trial. 

A healthier future

A typical day for 8-year-old Alexandra Anderson begins when her parents, Nicole and Matt, assist her out of bed. They move on to feeding Alexandra one of eight bottles, the first being a cocktail of medicine and vitamins, her most important. 

Lately, Alexandra has mastered holding her bottles independently, an exciting “inchstone” for the family. She also has taken her first steps while holding on to one of her parents.

Every inchstone in Alexandra’s life is equivalent to a milestone for other children. Born with Pitt-Hopkins syndrome, Alexandra requires around-the-clock support.

Impacting fewer than 1,500 people in the U.S., the disorder has no cure, and Alexandra spends time in a special school, plus some form of therapy five days a week. Nicole, Matt and their respective parents provide care at all other times, while also raising Alexandra’s younger sister. 

“Every little thing Alexandra does in life, she has learned to do through repetition and constant support,” says Nicole Almond Anderson, executive director, branding and communications at ASU’s Thunderbird School of Global Management. “Nothing has come easy to her, and this makes the accomplishment of her taking steps and holding her bottle so monumental to us. We never take one moment for granted, ever.”

Young girl playing with blocks

A new treatment for Pitt-Hopkins will help children like Phoenix resident Alexandra Anderson, who suffers from the rare disease. Photo by Sabira Madady

One of the most debilitating symptoms of Pitt-Hopkins syndrome is severe gastrointestinal pain — often in the form of chronic bloating and constipation that can result in hospitalizations. 

“Alexandra must take MiraLAX every day,” explains Nicole, ’04 Bachelor of Arts in journalism and mass communication and ’09 master's degree in nonprofit studies. “She has to eat a very specific diet or she can have a severe reaction.” 

Until recently, families like the Andersons had few options. While Alexandra Anderson couldn’t be part of this phase of the study because of not meeting the age requirement and difficulty swallowing pills, Nicole is optimistic that soon Alexandra can benefit, especially since the ASU team has since developed a powder form of the treatment. 

For Nicole Anderson, the microbiota transplant therapy represents a full-circle moment and hope at its core. An ASU alum and employee since 2007, she could never have known the university she loves would be leading research with the potential to radically improve her daughter’s life. This research also drove the launch of the first-ever human trial for the Pitt Hopkins Research Foundation, where she sits as a board member.

“ASU has always been such a profound part of my life and it’s now so surreal to be witness to this exciting research and potential treatment,” she says. “Pitt-Hopkins syndrome is largely unknown — even by medical professionals — and we are working hard to change that. If we can eradicate the debilitating GI issues in these individuals, it’s a monumental step forward. 

“Now our kids have an opportunity for a brighter, happier life. I am beyond proud that ASU is the institution driving this ‘happiness’  to provide people with a better quality of life.” 

Mother interacting with child to communicate using an iPad

Alexandra uses augmentative and alternative communication to speak to her mother, Nicole Anderson, through an iPad. Many living with Pitt-Hopkins syndrome are nonverbal. Photo by Sabira Madady

Learn more at autism.asu.edu

Story by Amanda Loudin, a health journalist; her work has appeared in The New York Times, The Washington Post, Harvard Medicine and other national media outlets.

Top photo: Phoenix resident Nicole Anderson poses with her daughter, Alexandra, who has Pitt-Hopkins. Photo by Sabira Madady

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