A Drug Benefitting Families With Fragile X And Autism Is Discontinued
For Holly Roo, mother of a child with fragile X syndrome, the drug arbaclofen allowed her son Parker to accomplish the unimaginable: express himself. But after more than 3 years of trials, Seaside Therapeutics, the drug's sole manufacturer discontinued the drug, leaving the Roos and other families dependent on arbaclofen at a loss.
Fragile X syndrome is a rare a genetic neurological disorder in which the X chromosome in DNA is fragile or broken. Its symptoms — including poor eye contact, sensory disorders, and aggression — are often mistaken and misdiagnosed for autism. Many boys with fragile X experience developmental delays.
The exact number of people living with fragile X syndrome is unknown. It's estimated that 1 in 5,000 males are born with the condition, although it affects both males and females.
For families like Roo's, arbaclofen, an experimental drug that mimics the GABA neurotransmitter, brought dramatic results.
"For the first time ever, my son said, unprompted, not mimicking but on his own, 'I love you mom,'" she writes in her blog about their experience with the drug.
The drug, known experimentally as STX209, has been tested for alleviating symptoms of autism. Like families with fragile X syndrome, families who saw improvements in their autistic children with STX209 have written extensively online about the drug's benefits.
In May, Seaside Therapeutics discontinued its efforts to bring the drug to the market, citing a lack of funding and "unproven safety and efficacy."
The family of Owen Zeagler, a 6-year-old with fragile X syndrome, had been taking the drug for years. They immediately noticed a difference once the drug was discontinued.
"Within a week of him being off the medicine, we saw a lot of his old behaviors that maybe we had even forgotten he had. They came back. A lot of pacing, hyperactivity, hand flapping," said Melissa Zeagler, Owen's mother.
Now these families are turning to internet petitions and letters to Congress in order to urge Seaside Therapeutics to being production again. On Facebook, the group Fragile X and Autism Families for STX209 had 1,9238 likes. A petition on Change.org garnered 4,784 signatures as of July 20, two days shy of Fragile X Awareness Day.
"Arbaclofen has had amazing results for many participants yet Seaside Therapeutics has had to immediately terminate this trial without gaining FDA approval due to lack of funding. We hope that this story, and there are thousands more, can inspire pharmaceutical companies to see that it has been a lifesaver for so many families and can definitely be profitable."