For 16-year-old Atlantic County resident Nicholas F., his tics began around kindergarten.
In addition to repetitively rocking his chair back and forth or tossing his pencil, “I would roll my shoulders a lot, jerk my head from side to side, and clear my throat every minute of the day. It wasn’t in my control — it just happened,” he said, so much so that a piano teacher found it impossible to teach him.
By the time Nicholas was officially diagnosed with Tourette syndrome in fifth grade, his tics had morphed into new ones, including jerking his hips to one side, and, though a bit less pronounced today, are again completely different.
“Now I grind my teeth or blink my eyes constantly,” said Nicholas, whose last name is being withheld to comply with conditions set for his participation in a clinical trial of an experimental drug that has shown promise in treating Tourette’s in a new way.
Two New Jersey medical facilities are participating in the trials, sponsored by the pharmaceutical company AstraZeneca. Nicholas and others facing similar challenges from Tourette’s are hoping the new drug will provide relief from the condition’s symptoms without the severe side effects of medications currently prescribed.
In addition to Tourette syndrome, Nicholas was diagnosed with obsessive compulsive disorder and was put on a variety of medications, all with limited success.
“Some of them put you in a catatonic state and we didn’t want to go that route,” his mother said. And while he surrounds himself with a few close friends and has been able to suppress some of his tics while at school, “that takes him a lot of energy,” she said.
“It used to be upsetting, but it doesn’t bother me anymore if people say things,” Nicholas said. The teen admits that he has endured his share of bullying.
Named in 1830 for French neurologist George Gilles de la Tourette, who was the first to describe the condition in medical books, “many equate Tourette syndrome with bizarre and dramatic movements, swearing, and loudness, but these symptoms only apply to a small percentage of patients,” said Roger Kurlan, medical director of the Movement Disorders Program at Atlantic Neuroscience Institute at Overlook Medical Center in Summit. “Tourette syndrome actually involves chronic motor and vocal tics which persist for at least one year and is one of a spectrum of disorders, along with OCD and ADHD, which comprise what we call the ‘triad of Tourette syndrome.’”
A disorder that affects 1 percent of children — three times more boys than girls and two times more Caucasians than African-Americans — Tourette syndrome is more commonplace than people think.
“Every school will have one or more kids with Tourette’s,” Kurlan said. And while the symptoms can involve more overt involuntary movements like blinking, making faces, curling the lips, jerking the head, moving fingers and toes, jerking the shoulders, arms, or legs, or vocalizations such as grunting, throat clearing, sniffing, or certain words or parts of words, “the symptoms may be mild enough that they don’t raise red flags or are just viewed as nervous habits or idiosyncrasies,” he said.
On the other hand, Kurlan said fewer than 5 percent of patients will exhibit coprolalia, or dirty speech, “where they involuntarily utter some kind of swear words or partial swear words,” a habit that has led to the development of several memorable TV characters over time and in many ways perpetuated society’s confusion over this disease.
“Tourette syndrome is often undiagnosed or misdiagnosed by doctors, misunderstood by educators and misrepresented by the media,” said Faith Rice, executive director of the New Jersey Center for Tourette Syndrome and Associated Disorders in Somerville, which provides family services, drives education and supports research for the disease that affects nearly 21,000 New Jersey children.
Kurlan said the peak of symptoms occur between ages 12 and 14 and that two-thirds of all cases resolve themselves after adolescence. However, “a full one-third of victims will not get relief and in some cases will worsen,” Rice said, a situation which describes her own grown son’s case, which led to her to create the center 10 years ago.
“It’s not just tics,” she said. “Nearly 80 percent of those with Tourette syndrome also have mental health disorders such as ADHD, OCD, or depression as well as school and social phobias and sleep disorders. Few medications treat Tourette’s specifically and it’s difficult to manage and live with.”
A New Approach
Last year, Overlook Medical Center became one of nine facilities nationwide — and one of two in New Jersey along with CRI Lifetree in Marlton — to participate in a clinical trial designed to test an experimental drug that has shown promise in treating Tourette’s in a new way.
In contrast to neurological movement disorders like Parkinson’s disease, where patients exhibit a too-low sensitivity to the neurotransmitter dopamine, “some studies suggest that Tourette syndrome reflects a too-high sensitivity to dopamine, causing excessive movement,” Kurlan said. “As a result, antipsychotic medications have been used to reduce dopamine sensitivities or block these receptors to suppress the tics, but the side effects are that they often sedate people, make them feel like zombies, trigger mood swings and promote weight gain.”
The new trial, sponsored by AstraZeneca and conducted under a U.S. Investigational New Drug application, is instead investigating the blockage of histamine in the basal ganglia portion of the brain.
According to Kurlan, “Scientists first became interested in histamine’s role in Tourette syndrome after finding abnormalities in genes involved in histamine production in Tourette’s patients and also after noticing that antihistamines taken by Tourette’s patients to relieve seasonal allergy symptoms often resulted in suppressing their tics to some degree. The trial approaches the disorder from a whole new direction,” he said, “and if this proves to be an effective treatment with fewer side effects, it could be a breakthrough for so many children and adults with Tourettes syndrome.”
As part of the ongoing trial, administration of the investigational drug and all results are blinded to the investigator, sponsor and participants.
In December, Nicholas became the first New Jersey candidate to enroll in the six-month trial for which he and his mom make a 2½-hour drive each way to Overlook Medical Center several times a month.
“I’ve noticed a reduction in my tics with no real side effects,” said Nicholas, an honor student and football player. “I’ve been doing pretty well and I hope that my involvement in the trial can help others who suffer with this on a daily basis.”
“There’s a tremendous stigma associated with any disorders of the brain, so we’re extremely excited and rewarded to see new research going forward in the field of Tourette syndrome and to support those efforts and help make a difference,” Rice said.
“This research is very important,” Kurlan agreed. “Even though we currently have good medications to treat Tourette’s, their side effects are not well tolerated. If this medication is successful with Tourette’s, it could hold promise for addressing other brain disorders as well.”
*** Clinical Trial ***
A national clinical trial for Tourette Syndrome is currently being sponsored by pharmaceutical company AstraZeneca and conducted under a U.S. Investigational New Drug application.
Though close to completing enrollment, the trial, which is roughly six months in duration, is open to children ages 12-17, and will continue until all 24 volunteers are recruited.