Lunch & Learn Series: Single-Dose Medication Study Results in Fragile X Syndrome

with Dr. Craig Erickson

Fragile X research has been going on for many years, and only continues to grow and evolve.  However, the results and scientific papers that come from research are not always widely accessible (or digestible) to the general public.  The Lunch & Learn Series aims to highlight current Fragile X research on an interactive platform, providing a space for researchers to present their study results, discuss the importance of their research and what it means to the Fragile X community, and answer questions directly from the audience.

During this 45-minute Lunch & Learn webinar, Dr. Erickson discussed details of a single-dose medication study in Fragile X syndrome (FXS), including how the study was done, what the results showed, and more over, why the results are important, what they mean for the FXS community, and next steps to move us forward.

Lunch & Learn Series:  Single-dose medication study results in Fragile X syndrome

Single-Dose Medication Study Results in Fragile X Syndrome Discussion

This 45-minute webinar opened with Dr. Erickson presenting on a single-dose medication study and its results, what the results mean for FXS research and future steps.  Following the presentation was a moderated Q&A centered around this research.  Below are a few topics and take-aways discussed during the webinar.

• A biomarker is something in a human being that is measurable and that has variation (meaning it’s not the same in everyone) that relates to the general presentation of a disorder or condition.  An example of a biomarker is cholesterol.  Cholesterol is a biomarker of heart disease; it shows variation in the general population and it has a relationship with heart disease (when cholesterol is high, it’s associated with a higher chance of heart disease)
• We mainly rely on mouse models for FXS research, which comes with challenges.  However, the mouse model has the most data supporting its use (meaning there are many papers and literature written based on research with mice).  Moreover, EEG data in mice has shown to be very reliable, with consistent results being noted across multiple different litters of mice over many years.
• Baclofen, the medication given as a single-dose in this research study, works on the brain’s GABA neurotransmitters.  Baclofen is shown to have an effect on high frequency activity areas in the brain.  However, baclofen appears to work better in certain type of populations (people with low or no levels of FMRP, the Fragile X protein).  Therefore, it’s thought that baclofen may be most beneficial in those with more high frequency brain activity and less beneficial or effective in individuals with higher levels of FMRP.
• The reason for a single-dose study was that the NIH required this model.  However, after following this requirement, researchers were pleasantly elated when they began to test different drug mechanisms on electrical brain activity and it worked!
• FMRP testing is currently only being done in research labs.  Currently, testing is done via blood sampling.
• We need to represent women with FXS more in trials.  This is crucial to understand how the response of girls/women with FXS differs than those of boys/men with FXS.  We can’t treat all individuals the same way.

Learn More About the Panelist

Craig Erickson, MD

Professor at Cincinnati Children’s Hospital Medical Center
Craig A. Erickson, MD is a Professor of Psychiatry at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine-Affiliated.  Dr. Erickson leads a neurodevelopmental clinical and research group focused on improving clinical care through research discovery.  He is the Director of the Cincinnati Fragile X Research and Treatment Center which is one of the largest such programs in the world.  He serves as the Chair of the Clinical Trials Committee organized by the National Fragile X Foundation and is a leader in translational medicine efforts in Fragile X syndrome, autism, and related disorders.  Additionally, he is the director of research in the Division of Psychiatry at Cincinnati Children’s Hospital.

Additional Resources

We are excited to share information and resources on our website that was referenced during the webinar.  We have included the link to additional resources and information below.

• Single-dose medication study in adults with Fragile X syndrome
• Research Results Summary
• Article in Journal of Neurodevelopmental Disorders