Photo by Laura Gilmore

(c) Photo: Laura Gilmore

For more than 10 years the NFXF has been participating in the life-sized chess game that is the federal budget. Even before the decision was made to bring the 2004 International Conference to Washington, DC, we had taken the plunge and begun participating in a number of efforts to impact the allocation of federal dollars to Fragile X programming and research. Since those early days, the National Institutes of Health has approximately tripled its yearly spending on FX research, which is now approaching $30 million annually.

Those early efforts also culminated in the passage of the Children’s Health Act, which in turn created the National Center on Birth Defects and Developmental Disabilities (NCBDDD), which in turn created (and funded) the Fragile X Public Health Program at the Centers for Disease Control (CDC). (Please pardon my alphabet soup; I’m almost done now.) This FX public health program is responsible for the funding that makes possible the Fragile X Clinical & Research Consortium (FXCRC), which now has 26 FX clinics nationwide. It is also the 10 years of NIH basic research funding that brought us to the point we are today, with credible optimism for new drug treatments that are progressing through various stages of clinical trials.

The Pain of Cancellation

To be sure, we have experienced a setback with the cancellation of the extension phase of the STX209 drug trials for Fragile X syndrome, and what have been deemed the technical failures of two other ongoing trials of this drug. The extension phase is when the placebo-controlled phase of the trials is over and families are offered the opportunity for their children to stay on the experimental drug and continue to allow the drug company to collect data.

Interestingly, the cancellation of the extension phase has opened a window into a world in which some of the kids most severely impacted by FX made some dramatic improvements. While this represented only a subset of all who were originally enrolled in the trials, and while not everyone improved so dramatically, the results led many to the  conclusion: We’re really on to something here! So the cancellation inflicted tangible and sometimes agonizing pain and devastating disappointment.

Any discussion of optimism for the future cannot forget the real sacrifice made by these families to bring us to the point we are today. Our future progress and success will be achieved only because we are able to stand on the shoulders of these pioneers. Many of you reading this likely know a family who was wrapped up in this saga. Be sure to thank them in a meaningful way.

NFXF Response

Many have asked what the NFXF has done to help avert the unfortunate termination of the STX209 extension phase (and possibly all current research on this compound). First, let me say that the NFXF was caught as much by surprise as everyone else in the Fragile X community. The families involved received only a day or two advance notice of the extension phase cessation, and the NFXF received the same. There was no insider knowledge here.

As “luck” would have it, the entire NFXF was together for a strategic planning meeting within days of this news. Everyone involved quickly realized the enormity of the development, split into sub-groups, and literally worked around the clock to compile and publish a comprehensive distillation of what was known, along with a list of questions that we knew everyone would be asking (and answers to those questions based upon the best information known at the time). Our work was made easier by the fact that Dr. Elizabeth Berry-Kravis is on the NFXF Board, was at our meeting, and was thus able to help supervise and guide the effort.

The result can be viewed at, with information updated as needed.

In addition, the NFXF:

  • Opened an immediate dialogue with the drug company,
  • Made inquiries into the (limited) possibilities for government programs that could help facilitate the extension phase of the trials and the unfinished ongoing trials,
  • Began to field inquiries from potential “angel” investors who were immediately introduced to Seaside,
  • Began to analyze the structural/regulatory issues at the FDA that may have contributed to this entire situation.

As most in the community by now know, none of these efforts have delivered the kind of solution capable of immediately reversing this course and restarting the stalled trials. Longer-term solutions must be developed. Unfortunately, such solutions will not address the difficult times being experienced by the families who were abruptly forced to exit the extension phase of the trials. The NFXF and the community at large share in their pain, and we are committed to supporting them throughout this ordeal.

Turning to the Future

But as a foundation representing the entire community, we must also turn our sights toward what comes next. While still tending to the wounds and concerns of those families whose children are now coming off of STX209, we must also marvel at the potential of what all previous research has made possible.

This remains a remarkably exciting time in the FX world. The prospects of disease modifying treatments remain on the near-term horizon. There are multiple other drug companies with other compounds in development that have shown great promise in early animal studies. We cannot allow the STX209 experience to cause us to turn away from or, worse yet, fail to participate in these upcoming trials. Truly, that is the only way we will see this through to a successful conclusion.

At the same time, the NFXF has undertaken to analyze what may be structural roadblocks in the FDA drug approval process that may have contributed to the STX209 results. Once we better understand these roadblocks we will be in a better position to propose and advocate for changes to the system that can facilitate approval of drugs that are safe and effective. We are hopeful that this plan will be ready to roll when we are together for Advocacy Day 2014.

More on the Autism Link

Finally, all of you know how increasingly connected FX and autism are. I have much else to report on that front, which, among other things, will help us put the STX209 situation into a more hopeful context for the future. I’ll look forward to sharing the news with you in my next article.