Posted at June 18, 2013 | By: | Categories: Advocacy,Seaside STX209 | 15 Comments

A Bump in the Drug Therapy Road: What Can Advocates Do?

Note: Just before I wrote this article, a group of parents that Margaret Mead could have easily been describing when she penned her most famous quote (“Never doubt that a small group of committed people can change the world. Indeed, it is the only thing that ever has”) wrote to—and just this week received—a formal response from the pharmaceutical giant, Roche. While the result was not what was asked for, the fact that “David” called out to “Goliath” and got an answer reinforces my belief in the power of Fragile X advocacy. Rest assured that the NFXF will continue to be here for those coming off STX209 and will also continue to develop a strategy to support others working hard on the drug treatments we know are out there. Advocacy Day next year could be a real Lollapalooza.

Seaside TherapeuticsBy now, nearly everyone with at least a passing interest in treatment for fragile X syndrome surely must have heard the news: Seaside Therapeutics, the company that seemingly started it all with the MGLUR5 theory (the identification of a critical pathway in the brain implicated in FXS), and new drugs suggesting reversal of symptoms in animal models and human trials that many expressed real optimism about, hit a bump in the road.

The details have been reported elsewhere (see In short, investors stopped investing, partners stopped partnering, and the small start-up venture experienced a shortage of resources, all of which led Seaside to abruptly cancel the continuation phase of drug trials that had ended months and even years earlier.

The participants in those early studies had been offered the option of having their kids stay on the experimental drug (arbaclofen), with Seaside picking up all of the costs. Those that took the company up on the offer had to continue the research protocol, so the approximately 200 who did so were likely the ones who had been seeing the most improvement.

This group seemingly had the world by the tail. One of the highly anticipated new drugs was working for their kids! From the earlier trials we heard that the drug didn’t work for everyone and, in a few cases, even made symptoms worse. But most of those who stayed on for the continuation phase saw real improvement, before anyone had even requested FDA approval.

It almost seemed too good to be true—and after the events of the last month it seems that it may have been. Within a matter of days, Seaside publicly reported the heretofore unknown results from the placebo controlled trials. It seemed almost impossible, but there the word was for everyone to see: “failure.” BUT WAIT, that word can’t include what radio great Paul Harvey used to call “the rest of the story,” can it? (If Paul Harvey doesn’t ring familiar, search Yahoo or Google.)

It seems that when these trials begin, the FDA requires drug developers to predict exactly what the drug will make better. People start taking the drug, and as they regularly visit clinics, physicians measure if and how much their symptoms improve.

In light of the fact that there are some dozen core symptoms of FXS, choosing the single one that will improve is a challenge. In the case of the “failed” Seaside trials (in separate populations with FXS and autism) it turned out the symptom that was predicted to improve, didn’t, and thus the trial was deemed a “failure.” But in actuality, many in the trial reported measurable improvement across a variety of symptoms associated with FXS—just not the predicted one. And so, it’s not all bad news, and there is still reason for hope. And that, to bring Paul Harvey back into the picture, is the rest of the story.

That’s also where advocacy comes into play. Fragile X and autism are inextricably connected, that much we know. But we need to do a better job of communicating that to people in power and getting them to think about supporting research into treatments capable of impacting the entire spectrum (FX and autism). We’re already hard at work on this, and in our next advocacy update we’ll fill you in on the recently held Washington, DC Congressional Roundtable. The NFXF and Representatives Harper and Engel were the sponsors, but both the Fragile X and autism communities were represented on the panel that testified.

We also need to do a better job of educating the FDA about FXS, about how to measure success in individuals living with developmental disabilities so that drug therapies that really are safe and effective can be recognized and approved.

Finally, a word to those who were in the Seaside continuation and who were fortunate enough to get a glimpse of what the future might truly hold for those living with FXS. We understand that it may feel like the rug has been pulled out from under you, but rest assured about this, please: Just as we were when you originally received the diagnosis of FXS, the NFXF is here for you. We’re here with the most up-to-date information, a comprehensive advocacy strategy to address policy issues that impact your lives, and a shoulder to lean or cry on whenever you need us.

Nobody said this was going to be easy, but by working and holding together, we will persevere.

Jeffrey CohenJeffrey Cohen
is the director of government affairs and advocacy and manages the federal affairs agenda of the NFXF and its annual Washington, DC Fragile X Advocacy Day. He has 2 children living with fragile X syndrome.


  • When someone finds a way to give my son stx209 back then I will see progress.

  • We started the study late, and was not real sure things were working,well now that we are off, boy that little bit of time my son had with this study it did great in helping him keep it together, and enjoying his life. He is not a happy camper now, I feel really sad for him. To experience life in a different way then take it all away is dishearting.

  • Need to start an internet petition. I have heard claims that president will respond to 50,000 or 100,000 which given widespread existing exposure (facebook etc) should be a piece of cake. It is impossible to be non responsive to your families stories. Political heat could force the FDA to adjust the testing criteria and incentivize one of the big pharma companies to buy seaside and resume production / testing for both the initial positive publicity and long term profit potential.

  • Keith and Anne Howe

    June 19, 2013 at 4:28 PM (Reply)

    We recently participated in a Canadian Drug Trial with our son Craig (21) with a drug (still unknown) that was suppose to help cognitive functioning. Instead it caused him to possibly hallucinate and his behavior became worse instead of better. Am I sorry? no! Am I wary of participating again, may be yes. Do I blame anyone? No! All this is important to advance the science of what can help and what may not.
    Craig should get better, as the half life of the drug wears off, but right now for us it is still kind of scary to know we can change his behavior and even though he knew he was taking a drug to help his ‘brain’ did I do him a disservice. Many questions to be answered yet.

    Anne Howe
    Ontario Canada

  • Gail and Steve Schmidt

    June 19, 2013 at 4:36 PM (Reply)

    Thank you Jeffrey for a thoughtful and helpful summary of the recent events.

  • Roger and Nancy Hoh

    June 19, 2013 at 10:02 PM (Reply)

    Our son, Alex was a part of this study until he had to drop out because they couldn’t increase the dosage to fit his size. We saw some wonderful results, the greatest of which was the fact that, for the first time in his life, his anxiety was low enough to enable him to willing take a blood test. This is HUGE for someone who is 25-years-old and weighs 210. The unfortunate result of stopped the drug is that we now have a large man who is always on the edge of imploding. He is not a happy camper and he hasn’t been since he came off of the drug. Would I do it again? Yes, I would, because it’s our hope for his future.

  • please stay in touch, I have grand kids with fragile x and as a grand parent i past this silent gene to my daughters

  • I don’t feel like the rug has been pulled out from under us. I feel like a window has closed. It feels very sad. Both of my children (ages 12 — male and 8 — female) were in this study. I cannot begin to tell you how their behavior has deteriorated after weaning off arbaclofen. Particularly with my daughter, her hyperactivity has increased dramatically and her functional communication has decreased.

    • After weaning off the medicine, my son’s anxiety has increased and he is much more explosive when he gets anxious.

  • My son, Trevor, participated in the STX209 study. In the 12 weeks he was receiving arbaclofen, he made great strides. Since weaning him off and transitioning to baclofen, I have seen some regression. We had a few rough days with meltdowns, and his anxiety increased briefly while transitioning. He also began to stutter again. Although this is a setback for his development, I feel the baclofen is of benefit to him. He is on a steady dose of baclofen now, and his mood seems to have stabilized once again. We haven’t seen any aggression in a week (knock on woodI). I will remain hopeful and wait patiently for the return of arbaclofen, but in the meantime, I’m glad we decided to give baclofen a try.

  • Interested in all new studies published on fragile X.

  • Our son was in trial from the beginning blind testing, and has be on arbaclofen for several years. The results were amazing, and he has been much better. We have switched him to baclofen, with the help of a sympathetic physician, and so far, have seen no regression. It is so terribly sad that the testing did not continue, or at least let the drug be prescribed.

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