The Record (Hackensack N.J.) | Posted: Wednesday, July 11, 2012 12:00 am
By Barbara Williams
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.
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," Jon 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."