A message from the Jeffrey Cohen, NFXF interim executive director.


Jeffrey_Pat MuellerI recently attended a meeting focusing on “The Future of Fragile X Public Health Research.” One of the hot topics was how the collection of public health data can improve how we measure success in clinical trials results. The event was hosted by the Center for Disease Control’s (CDC) National Center on Birth Defects and Developmental Disabilities (NCBDDD) on May 19 and 20 at the Tom Harkin Conference Center in Atlanta.

The National Fragile X Foundation (NFXF) and the John Merck Fund co-sponsored the event along with the CDC. Public health research in Fragile X (FX) has a different, yet equally important role right alongside basic science research. One example of this is demonstrated by the difficulties that have been experienced measuring (and proving to the FDA) how new targeted drug treatments are making a positive difference for individuals living with FX and autism. Basic science of the type typically funded by various institutes at the National Institute of Health (NIH) have established the targets in the brain and the compounds that have been so successful in reversing the effects of FX in animal models.

But when we move into clinical trials of these drugs in humans it is critical that we have measurement tools capable of capturing how much these new drug treatments improve one or more of the deficits seen in individuals with Fragile X. Such measurement tools are referred to as “outcomes measures.” As you have likely heard, many members of our community believe that the less than satisfying results of recent trials can, at least in-part, be related to the lack of good outcomes measures.

FXCRC FORWARD Database

Jeffrey_JohnsonsThat’s where the Fragile X Clinical & Research Consortium (FXCRC) comes in. (FORWARD stand for Fragile X Online Registry with Accessible Research Database.) The clinics are collecting longitudinal data about the natural course of Fragile X over time. If we can better catalog the many and varied ways Fragile X impacts individuals, then our ability to capture and measure improvements in these areas will be made easier. And this process will lead us to the better outcomes measures we so desperately need now.

The purpose of the recent CDC meeting was to assist the agency in developing a strategic plan so the limited resources available to fund Fragile X public health efforts can be directed to areas of greatest need and potential impact. Data collection is at the core of public health research.

Sixty of the top experts in the field met in Atlanta and the results of this meeting will be presented at the NFXF International FX Conference in July. (Suffice it to say, a good part of the discussion at the Atlanta meeting centered around the need to develop better outcomes measures.) The longitudinal data that is currently being collected in the FXCRC FORWARD Database by the clinics will play a crucial role in this process and the NFXF is proud to play a prominent role in this effort.

I recently attended the Gordon Research Conference (GRC) on FX and autism and I’ll be writing about that in my next update. Until then, let me share a quote from Winston Churchill that I believe characterizes where we are today. (Thanks to Mike Tranfaglia for bringing this to my attention at GRC.)

Now this is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the of the beginning.


Source: Winston Churchill

Welcome to the next phase of our journey! Our direction? Forward!

 

Jeffrey Cohen
Interim Executive Director
National Fragile X Foundation