Managing Editor's Note: The drug in question called arbaclofen, was in clinical trials for both Fragile X and autism. To learn more and to read about family stories, please visit stx209.com
A Plea for Help: Fragile X Stories
By Melissa Welin
Most pharmaceuticals represent years of research, millions of dollars of investment, and the tacit promise made by the government that what is in the bottle is safe and effective.
Most pharmaceuticals also represent the personal stories of patients and their families; stories that are often filled with suffering, struggle, but most importantly hope.
Of course, we understand the responsibility of the FDA to protect the public.
Of course, we understand that pharmaceutical companies are responsible to shareholders and have a complex formula to determine how they allocate resources.
But sometimes, amidst shareholder meetings, bottom lines and risk aversion, our personal stories are lost. Sometimes, we have to remind those who control access to promising treatments that there are lives at stake… that balanced against their ledger is our precious, fragile hope.
Recently, Roche Pharmaceuticals was involved with a Cambridge, Massachusetts-based company called Seaside Therapeutics, Inc., which has been developing a drug called STX209 (arbaclofen). This compound has been in Phase III trials for children with fragile X syndrome (the most common known single gene cause of autism) and Phase II trials for children with ASD (which has had positive results).
When Roche pulled back on R&D investment, it ended its involvement and financial support for STX209. Without Roche’s backing, Seaside Therapeutics was forced to issue the following statement on May 15, 2013 to the clinics involved in the administration of arbaclofen:We regret to inform you that Study 209FX303 [An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of STX209 (Arbaclofen) in Subjects with Fragile X Syndrome] is being terminated immediately. The closure of the study is due to resource limitations at Seaside Therapeutics, Inc., and is not related to any known safety issues in patients dosed with STX209.
As of June 7, 2013, Phase III trial participants will no longer have access to STX209. The abrupt end of the study will leave our children in danger of significant regression.
For many of us in the study, arbaclofen has been that miracle for which we had hardly dared hope. A child, who had never wanted to be touched, opened his arms for a hug. For the first time, a five-year-old said, “Mommy”; a ten-year-old said, “I love you.” Children were making friends, learning to read and write. We started to believe in the possibility of a “normal” normal.
But, as each morning brings us one dose closer to the end, we have to find a way to cope with the very real possibility that our children will retreat back to that frightening, isolating world of their own.
In addition to funding issues, Seaside Therapeutics, Inc. Vice President Dr. Paul Wang identified another systemic problem:The FDA requires companies to pick one, and only one, assessment as the “primary endpoint” of the study. In their eyes, the result on that one pre-selected endpoint makes or breaks the study. In our recent autism study, STX209 did not show an advantage over placebo (see above) on the primary endpoint of social withdrawal, so the FDA and some news reporters regard it as a negative study. In fact, STX209 did show advantages over placebo on a number of other assessments. Some of these secondary endpoints are just as meaningful as the social withdrawal assessment, or even more so, but in the FDA’s eyes, they don’t make the study a positive study, because they were not pre-selected as the “primary endpoint.”
While the FDA must safeguard the public, it is time to reconsider regulations that stifle research and, as with arbaclofen, bring an untimely end to a life-changing medication.
For all we give to make drug trials possible, our voices must be heard. We have decided to take action.
A few parents of children affected by the end of the arbaclofen trial are writing to Dr. Severin Schwan, chief executive officer of Roche Pharmaceuticals to ask that they reconsider their support of Seaside and arbaclofen.
Separately, discussions have been taking place within the fragile X community regarding how the FDA measures trial success; it’s current method adds even more difficulty to drug research aimed at treating complex, spectrum disorders like fragile X and autism.
We know this will not be an easy battle, but we all have plenty of experience persisting in the face of a difficult fight. That said, there is strength in numbers, which is why we wanted to reach out to you and communicate our situation and plan.
Innovation and risk-management in the pharmaceutical industry are both essential and we want to continue to support research any way we can. But, there’s only so much heartache a family can stand. There has to be a better way. What’s happened to our families, and to Seaside, clearly illustrates why there has to be change.
We would be deeply grateful for your support. To receive more information, please contact Melissa Welin: firstname.lastname@example.org
Melissa Welin is the mother of
a son with fragile X syndrome, she lives in Cambridge, MA with her husband. In
addition to blogging about their lives at www.basicallyfx.com
they are active advocates in the fragile X community.
The treatment category is sponsored by Lee Silsby, the leader in quality compounded medications for autism.