Last August, Laurie and Eric Chern traveled from their home in Chicago to have lunch with a few moms in North Carolina. Longtime supporters of Autism Speaks and the parents of a son with Asperger syndrome, the Cherns had helped fund a study testing whether a nasal spray containing oxytocin, a hormone involved in social bonding, could improve the social and communication skills of children on the autism spectrum. They wanted to meet some of the North Carolina families participating in the research.
One of the moms, Barbara Marotto, of Rougemont, N.C., talked about her son Gabe, now 8. “From the day he was born, Gabe didn’t connect with me in ways that babies typically connect,” Marotto said. “He never looked at me. He never babbled. He hated being swaddled as a baby.” By the time Gabe was 2, it became clear to his mom that the usual “parenting techniques” had little effect on his tantrums and other difficult behaviors. “As he got older, he was very, very active and literally bounced off the walls,” she recalled. Gabe also became extremely aggressive toward his younger brother. When he was 4, he was diagnosed with autism. Two years later, his parents enrolled him in the oxytocin trial at the ASPIRE Research Program of the University of North Carolina School of Medicine, in Chapel Hill. His psychiatrist, Linmarie Sikich, M.D., led the investigation, with the support of the Autism Speaks research grant that the Cherns had funded.
For eight weeks, roughly half the 25 children were randomized to receive the oxytocin nasal spray, while the other half was given an inactive spritz of saline, or salt water. Marotto recalled how she immediately saw evidence that Gabe was receiving the “real deal,” not the placebo. “It was like this little boy came to life. He laughed and smiled a lot more, and he was very expressive,” Marotto recalled. “I also noticed a big difference in the fluidity of his communication. He had always been able to talk, but it’s a struggle for him. With the oxytocin, that difficulty disappeared.”
Though the participants were randomized to receive either oxytocin or a placebo for the first eight weeks, subsequently all participants received the oxytocin spray for another eight weeks. In this way, every child experienced the treatment.
The Cherns were thrilled to hear the mothers describe their children’s positive response. But they were also quietly devastated by what they heard next. The moms described how their children’s social gains slowly evaporated when the clinical trial was over and they were tapered off the oxytocin. One mom described it as “being given a gift and then having it taken away.” After the mothers left the room, Laurie broke down and cried.
The Cherns tried to stay focused on the bigger picture – and the great news Dr. Sikich had shared before they met with the moms. She had informed them that thanks to the positive results of the pilot study they helped fund through Autism Speaks, she had received a $12.6 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD) to conduct a much larger and longer trial on oxytocin in children and teens with autism. This represented a huge step toward possible approval from the Food and Drug Administration (FDA).
“I turned to my husband and said, ‘I think we hit the jackpot,’” Laurie recalls.
Dr. Sikich says that the grants from Autism Speaks and NICHD have affirmed the many years she has dedicated to improving social and communication disabilities in individuals with autism. “The ability to relate to other people, to communicate with them, is one of the things that make us most human,” she says. But, like many healthcare professionals working with those in the autism community, she had long been frustrated by the lack of medications to treat autism’s core symptoms.
When researching potential treatments, she saw great promise in the hormone oxytocin. First, the body produces it naturally. Second, she found strong research on its use in laboratory animals and humans – though relatively little of this applied specifically to autism. For instance, animal studies had clearly shown that oxytocin promotes social behavior and bonding between offspring and their parents. In primates, it increases awareness of other individuals in the same enclosure. And in several studies in humans, subjects who received even a single dose of oxytocin showed improvements in social judgment and their social interactions. In one small, preliminary study, individuals with autism showed improved responsiveness to others during social games such as ball tossing after just a single dose of oxytocin nasal spray.
“These kinds of findings suggested that maybe we could give oxytocin on an ongoing basis to really improve things on a social perspective,” Dr. Sikich says. She also hoped that improving social interactions could enhance learning – and so increase the benefits of therapist-led interventions, as well as success in school.
“So much of how people learn is based on social interactions,” she explains.
As a practicing psychiatrist, Dr. Sikich also recognized that many parents were administering oxytocin to their children without medical guidance. Often times, the oxytocin supplements they purchased lacked safety testing or even standardized concentrations. At the same time, when these parents came to Dr. Sikich seeking advice, she had little insight to offer. “We had no clear way of looking at how well it works and what its side effects or long term effects might be,” she says.
In 2010, Dr. Sikich received the Autism Speaks grant the Cherns helped support for a two-year pilot study. Her team enrolled 25 children with ASD between the ages of 3 and 17. The interest was immediate and huge. “This was the fastest we had ever seen a clinical trial attract participants,” she says. In addition to the 25 children accepted into the pilot trial, the team had 100 more on a waiting list. (These children are now eligible to participate in the larger trial, which will enroll 300 children and teens.)
The preliminary results of the study’s first phase found that those who received the oxytocin showed greater improvement in social behaviors compared to those who received the inactive spray.
Based on these early findings, Dr. Sikich applied for the NICHD grant. “We were concerned because we hadn’t yet completed the pilot study,” she says. But the grant deadline was looming. To her surprise, the study reviewers at the NICHD began emailing questions. They wanted more details about her pilot study, a very good sign. NICHD funding would be particularly important, Dr. Sikich knew, because of the limited commercial potential for the treatment. Few pharmaceutical companies are likely to be interested in oxytocin because clinical trials are very expensive, while a natural substance cannot be patented to recoup the investment, she explains.
Autism Speaks’ community of families has become incredibly sophisticated in their understanding of the science behind therapeutic studies like these, says Robert Ring, Ph.D., Autism Speaks vice president for translational research. “As donors, they have become engaged in providing the financial leadership that is being leveraged to ensure greater translational impact. “This is exemplified by the Chern family and further illustrates how our donors are essential partners in the translational process.”
The larger study, slated to start in 2013, is called SOARS-B, for Study of Oxytocin in Autism to improve Reciprocal Social Behaviors. It will take place at five centers across the country. (For specific locations, click here).
During this study’s first six months, half of the participants will receive the oxytocin nasal spray and the other half will receive the placebo. During a second six-month phase, all participants will receive oxytocin. Researchers will measure improvements in social skills and communication. They will also use blood samples to conduct genetic tests to look for evidence that oxytocin alters gene activity in ways previously associated with sociability.
In addition, Dr. Sikich’s group plans to study other treatments. As part of the NICHD grant, she received an Autism Centers of Excellence (ACE) grant that will allow the team to train autism researchers and set up an autism-research network. “The hopes are that this won’t be a group of investigators that just does an oxytocin trial, but that this will be a group of investigators who will research lots of treatments for autism,” Dr. Sikich explains.
“The grant would not be possible without the Cherns and other families that contribute to Autism Speaks,” Dr. Sikich adds. “Their level of caring and concern was really obvious. I was really impressed with how much they wanted to help all people with autism.”
Wanting to connect
“When someone says ‘thank you’ to me for our volunteer work, I laugh, because I don’t think that people understand what it does for me, that this is my best form of therapy,” says Laurie Chern, a former first-grade teacher. Ever since her own son, Dylan, started showing signs that his behavior was different than other kids, Laurie has wanted to connect with other moms.
“The behaviors I saw in Dylan were not things I had experienced with any of my friends’ children. I didn’t know who to reach out to,” she explains. When Dylan was 2, he banged his head on the floor and the walls. He was fearful of loud noises and couldn’t tolerate many food textures including that of baby food or sandwiches. In preschool, he would roll his head on the carpet during circle time. He had trouble respecting other kids’ personal space.
Over the next few years, Laurie struggled to figure out why her son was different and how to help him. He received speech therapy for auditory processing delays and occupational therapy for low muscle tone and lack of coordination. At the age of 4, a neurologist screened him for major neurological problems. At 5, he underwent a complete psychological examination. That led to an initial diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). At 7, he was re-evaluated and diagnosed with Asperger syndrome.
“Throughout the experience, I had a really hard time, and a lot of that was because I didn’t know anyone who was dealing with what we were,” Laurie says. She looked for support groups online with little luck. She talked with her best friends, but sensed that they didn’t quite understand.
In 2010, her husband’s 40th birthday became a turning point. She knew Eric would be uncomfortable being the center of attention for a traditional birthday party. She decided to make it a fundraiser for a cause that would be meaningful to them both. She chose Autism Speaks.
She decided on a gambling theme and silent auction. Laurie canvassed local businesses, asking for donations for the silent auction and at the same time explaining autism and its prevalence. At the party, guests received chips for gambling, and could win gift certificates to local restaurants. If they wanted additional chips, they could write a check to Autism Speaks. Laurie also asked that in lieu of a gift for Eric, they make a donation to the organization. All told, the party raised over $10,000. Standing before the crowd, Laurie read prepared remarks about Eric that included mention of Autism Speaks as a cause near and dear to their hearts. But she stopped short of mentioning their son’s diagnosis. “I was still going through the process of accepting that he had Asperger and wasn’t quite ready to talk about it other than with my close friends,” she recalls.
That night launched the Cherns into the world of autism volunteerism. “I found having a fundraiser and what we had done to raise awareness so gratifying,” she says. “I wanted to continue that feeling of reaching out to others.”
She began volunteering with Autism Speaks’ Chicagoland chapter. Along with Liz Klug, Autism Speaks’ Midwest regional director, she created the Community Ambassador Program, which trains volunteers to raise awareness about Autism Speaks’ resources for families among doctors, psychologists, educators and other professionals.
“There were lots of people who wanted to help but didn’t know how to get involved,” Klug says. “Laurie told me that she felt isolated when her son was diagnosed, so she created a way for us to reach out to people. At the same time she created a community.”
The biggest reward for her time and energy, Laurie agrees, was the opportunity to connect with others. “In training volunteers, I was able to share in their personal stories and build on those relationships,” she says.
About a year after Eric’s birthday fundraiser, the Cherns decided they wanted to make a larger donation – specifically one that would further research toward a promising treatment for autism. They reviewed a list of about 30 clinical trials that Autism Speaks had approved for funding. Laurie immediately drew stars next to the oxytocin trial.
“It appealed to me because it was something that could potentially help a huge number of kids no matter where they were on the spectrum,” she says. The Cherns also appreciated that the medication was delivered as nasal spray rather than a pill, which many children with autism, including their son, resist taking. They also liked that the study involved minimal blood work, another stressful experience for many individuals with autism.
As the trial began enrolling participants, the research team sent the Cherns regular updates. They appreciated the feedback. But Laurie, in particular, craved a more direct connection. She wanted to meet the families behind the data. She wanted to see how their kids were doing. “I wanted to make it more personal,” she says. Dr. Sikich welcomed their visit, as did several of the moms in the study.
During that lunch, the conversation naturally turned towards their children. They shared stories about the way their kids would prefer to read a book in the corner while their friends ran around having fun. They talked about their children’s struggles with anxiety and aggressive behavior.
“I asked so many questions, and they told us about their children and the behaviors they had been dealing with,” she says. “We travel a thousand miles and sit down with a family we don’t know and we share the same feelings and stories,” she says. “I really felt connected to these women.”
Laurie continues to stay connected with other parents through the Community Ambassador program, as well as an Autism Speaks support group called Sibshops, for siblings of children with autism. Dylan’s younger twin sisters attend. In addition, Laurie chairs her chapter’s Resource Fair Committee, bringing exhibitors to Chicago Walks. She and Eric also chair the chapter’s Light It Up Blue Committee.
Today, Dylan is doing well in sixth grade, though he still struggles socially. If oxytocin proves effective in addressing social deficits, Laurie and Eric say they would have to think long and hard about whether or not they’d want Dylan to try it. It’s a highly personal decision, Laurie says, but one that she’d like to see backed by reliable, scientific research.