Teen is on front lines of autism clinical trialShe lives in a world no one else can enter, unable to speak or interact with others. But 16-year-old Rebecca Singer may be playing an important role in science.
By: Barbara Williams , The Record (Hackensack N.J.)
HACKENSACK, N.J. — She lives in a world no one else can enter, unable to speak or interact with others. But 16-year-old Rebecca Singer may be playing an important role in science.
Rebecca has become the first patient in a clinical trial testing a drug that researchers hope could pull her out of her reality and eventually lead to a groundbreaking autism treatment.
In the study led by the Mount Sinai School of Medicine and assisted by a research team from Rutgers University, the Tenafly, N.J., girl is taking a growth factor hormone that was shown to reverse in mice some of the deficits associated with autism.
Researchers aren’t expecting a cure but are hopeful for a "disease modifying" outcome, said Dr. Alex Kolevzon, one of the physicians working on the study and the pediatrics clinical director at the Seaver Autism Center at Mount Sinai.
"We know that humans don’t always respond the way mice do, but there’s the potential for significant benefit," Kolevzon said.
Such words are remarkable to parents of children with autism. "I’m trying not to get my hopes up that this could be the miracle we’ve been waiting for," Rebecca’s father, Jon Singer said. "But there is the possibility that it could be and even if this hormone only helps in a small way, it’s a start."
Autism rates are rising at a startling pace. One in 88 children nationwide now has the disorder. New Jersey’s rates are even higher — one in every 49 children, including one in every 29 boys — according to a report released in March by the Centers for Disease and Control and Prevention.
Rebecca and two other children in the 7-month blind study are being injected twice a day for three months with growth factor IGF-1 or a placebo, separated by a four-week resting period. The insulin-like hormone is typically used for children not growing appropriately for their age.
In a trial last year, IGF-1 was shown to reverse nerve cell communication damage in mice. People with autism seem to have the same type of deficits.
All the trial participants have a mutated or missing gene on chromosome 22, which causes Phelan-McDermid Syndrome, a rare genetic disease that causes severe disabilities and, often, autism. Chromosome 22 is involved in processes crucial for learning and memory; the loss of it can impede neuron communication.
People with Phelan, estimated at fewer than 700 worldwide, typically have profound intellectual disabilities, chewing and swallowing problems, no formal language, and autism.
"Rebecca seems to understand certain things and can use a fork and drink from a cup, something we didn’t think would ever happen," Singer said. "She turns the pages of a book when we’re reading to her but we’re not sure how much of it she understands."
Though Rebecca doesn’t speak, her family understands her rudimentary method of communicating, like when she stops what she is doing to sit on a kitchen chair — meaning she’s hungry. When she wants to go to her favorite place — anywhere outdoors — she stands in front of the door. Her father, her mother, Michey, and 12-year-old brother, Sam, can interpret the sounds she makes to know whether she’s agitated or happy. And anyone can see her face-wide grin when she’s in a pool or riding her bike.
"She’s a real trouper — she’s been poked and prodded so much and she doesn’t really cry or give us a hard time," her mother said. "I’m cautiously hopeful this trial will be groundbreaking and even if it doesn’t help Rebecca, it will help someone else down the road."
Now that Rebecca is in the study, her loved ones are watching carefully for any improvements — better eye contact or more fluid movements — though no one knows whether she’s taking IGF-1 or the placebo.
"Sometimes I think she’s doing better with her fine motor skills but I have to remind myself how powerful suggestion can be," her father said. "Her teachers will tell us they believe she’s making longer eye contact, but we have to keep all this in perspective. Even though everyone is trying to be objective, sometimes you see what you want to see."
(EDITORS: STORY CAN END HERE)
While others look for hopeful signs, Michey Singer has her eyes trained on the conditions that indicate her daughter may be suffering from the growth factor’s side effects — low blood sugar, light-headedness or a more pronounced limp.
"I test her blood sugar three times a day and watch if she’s limping," Michey Singer said. "Even without the trial, there’s constant worry with Rebecca — she can’t tell me when something is wrong so I’m always listening and watching to see if something seems off."
Two years ago. scientists discovered how to create autism-like conditions in mice, altering the chromosome to disrupt nerve cell communication. Less than a year later, researchers gave the affected rodents IGF-1.
By Day Six of the two-week treatment, they had reversed the damage.
"IGF-1 promotes synaptic growth in nerve cells," Kolevzon said. "You can’t compare the time frame between mice and humans but if IGF-1 is successful, this may shed a broader light on autism."
(EDITORS: STORY CAN END HERE)
A psychology research team at Rutgers University may be among the first to see any improvements in Rebecca and others in the study. Elizabeth Torres, an assistant professor who leads the group, said they are creating three Avatar-like images for each patient — before the study begins, half-way through the trial, and after it is over.
Comparing the images may allow researchers to discern slight changes in movement that may not be visible in the patient, researchers said.
"We’re collecting motion patterns — 240 points of movement for each second," Torres said. "These movements are like fingerprints, unique to each person, and we can track their performance gains."
Emerging research points to genetic mutations as a likely cause of autism spectrum disorder. Specifically, different genetic mutations may cause the common symptoms associated with the disorder, such as problems with social interaction, language and behavior. The Mount Sinai work could trigger other studies on various gene mutations, experts say.
In addition to having autism, people with Phelan also have a wide range of symptoms including intellectual disabilities, sleep disorders and seizures. Infants may have very low muscle tone, poor motor control and problems with eating and swallowing.
Jon Singer works tirelessly for autism causes. He raises funds for research; helped launch the Reed Academy in Oakland, N.J., a school dedicated solely to students with autism, and publishes books for parents of special-needs children.
He fought hard to get Rebecca into the clinical trial. At first, it seemed her body was finished growing, making the potential side-effects too dangerous, but Singer found several doctors to review the tests and confirm she was still a good candidate.
"We’ve wanted to get her into this study for a year-and-a-half," he said. "We have no idea what the outcome will be — if there are improvements, will they be reversed when the injections stop? But I’m very excited about it."
Distributed by McClatchy Tribune.