For most people, attending a relative's wedding is a happy occasion. But for one Highland Park couple, seeing their son socialize and dance qualified as a once-in-a-lifetime thrill.
"Ethan was just so appropriate ... so engaged in life," said Rebecca Fishman, reflecting on the spring event. "For one glorious moment, we got to be this normal family ... and I just can't let that slip away."
Ethan Fishman, 20, has Fragile X syndrome, a genetic condition closely related to autism. His mother credited his newfound social skills to arbaclofen, an experimental drug he was taking in a clinical trial.
- Video: Experimental medication for Fragile X helps family
- Rebecca Fishman said of her son Ethan's response to the experimental drug arboclofen to treat his Fragile X syndrome, “Instead of being on the outside of life, Ethan wanted to be a part of it.
- Graphic: The drug-developing process
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But the study was terminated in May because it failed to reach its goals and resources were limited, according to a statement from Seaside Therapeutics, the company that created the drug. Two months later, with the drug no longer available, the Fishmans, along with other families in the trial, say the benefits they had observed are dwindling.
"It's just been devastating," said Rebecca Fishman, who was attending her 11-year-old child's school concert when the news about ending the study popped up in a text message. "I had to get out of there ... it felt like a death."
The Fishmans' experience sheds light on the emotional roller coaster of all clinical trials, which combine vulnerable and often desperate patients with untested drugs and market forces. Despite all the consent forms and cautionary language, the subjects sometimes perceive the process as a cure, rather than an experiment.
It also illuminates the long odds of bringing new drugs to market. Researchers say the challenges are particularly daunting when the objective of the study is assessing something as complex as behavior, which, unlike the size of a tumor or cholesterol count, is difficult to measure.
Three Illinois families whose children participated in the trial and took arbaclofen told the Tribune they believe the drug reduced their child's anxiety or increased communication. They viewed the drug as the key to unlocking the enigma of Fragile X, which has no cure and affects 1 in 100,000 Americans with symptoms ranging from mild aggression to severe cognitive impairment.
While the drug showed significant benefits in some areas in the 300-patient trial, researchers said, it failed to beat the placebo on the main goal of the study: social withdrawal. That caused Seaside and its partner, Roche, the Swiss pharmaceutical giant, to pull the plug. Seaside and Roche issued statements expressing regret and acknowledging the disappointment by participants.
The drug is unavailable anywhere in the world, leaving the families frustrated and feeling abandoned. Following the announcement, advocates started online petitions, reached out to potential investors and even appealed to the White House, all to no avail.
"I got so much out of those 31/2 years," sighed Holly Usrey-Roos, referring to her son's time in the study. His vocabulary exploded, enabling the 14-year-old to use a complete sentence rather than a single word when he wanted an object. One of those sentences allowed Usrey-Roos to hear Parker say "I love you" for the first time.
The single mother made the four-hour one-way drive each week from her home in Canton in west central Illinois to Rush University Medical Center, the largest of Seaside's 23 research sites.
"You know going in that participating in a trial is a risk," said Usrey-Roos. "But we didn't expect it to end this way."
Melissa Zolecki of Plainfield said she also observed dramatic strides forward, including being able to take her 12-year-old son, Matt, for his regular blood draws without him physically resisting.
"It's just so frustrating to know that there's help out there and not be able to fix it," said Zolecki, whose son started taking arbaclofen in 2010 and finished his last dose in mid-June.
Clinicians frustrated, too
Ethan, Parker and Matt are just a few of the 40 patients followed by Dr. Elizabeth Berry-Kravis, a key investigator for the trial of the drug, also known as STX209. It's a derivative of a drug used to treat muscle stiffness in cerebral palsy and was also thought to quiet some of the "noise" in the brains of patients with Fragile X syndrome, which is caused by a single gene.
After four years, arbaclofen was in the home stretch of new drug development that could lead to Food and Drug Administration approval for marketing — to confirm effectiveness, monitor side effects and collect data. It also required meeting a clearly-stated and specific goal: In this case, arbaclofen's effect on social withdrawal in patients ages 12 to 25.
During the first three months, neither Berry-Kravis nor the volunteers knew who was on the drug or the placebo. Later, all participants had the option of going on arbaclofen.
The drug cleared early safety hurdles and researchers were focused primarily on efficacy, said the pediatric neurologist. Among her participants taking the drug, about one-third had little or no improvement from their previous behaviors, one-third showed some benefits and for the remaining 30-40 percent arbaclofen "could be life-changing," she said.