Research

Current State and Goals of FXTAS Research

Although FXTAS was only recently discovered, Fragile X experts quickly recruited colleagues in other fields to help define the clinical features of the disease, how it is passed through families, who should be tested, and how to treat the symptoms.  The result is an organized network of physicians, neuropsychologists, basic scientists, and others who are working very hard to make progress in this disease.  Currently, there are several National Institutes of Health funded projects in FXTAS.  These include clinical projects to define the memory problems in FXTAS, how FXTAS changes over time, where individuals with FXTAS are receiving their care, and whether certain medications have an impact on the symptoms or progression of the disease.  In addition, the National Fragile X Foundation has funded clinical research in order to develop scales that measure disease severity that researchers can use when testing medications in the disorder.  Basic scientists have also been very busy and have developed animal models of FXTAS, defined the basic changes that occur at the cellular level, and are making progress in determining who will develop the disease.

The goal of future research in FXTAS is to find a therapy that will slow down or stop the symptoms of the disease.  It is likely that this approach will involve studying the changes in brain and other cells and also testing new medicines that are promising in affected individuals.  There are three main obstacles for researchers. The first is that FXTAS is a rare disease and it is difficult to recruit enough patients to test drugs appropriately.  Families with persons affected with FXTAS are encouraged to get in touch with the National Fragile X Foundation or directly with the researchers in order to get involved.  FXTAS centers are being developed around the country and this will also help with recruitment for clinical trials of new medications. The second obstacle is funding.  As FXTAS is a rare disease, finding funding for research is more difficult than it is with other diseases and families can contribute by supporting individual projects, researchers, or foundations that pay for this research.  Finally, in order to understand the disease, researchers need tissues, such as autopsy tissue, to answer many of the questions concerning how and why the disease is occurring and what can be done to cure the symptoms.

Contributed by: Deborah Hall, MD, PhD