Program director Jonathan D. Picker, MD, PhD has been the chairman of the Clinical and Professional Development Committee of the Fragile X Clinic and Research Consortium (FXCRC) as well as a member of the steering committee charged with guiding the direction of national policy on care and research directions.
Dr. Walter Kaufmann chairs the Infrastructure Committee of the FXCRC and has been instrumental in establishing an Executive Committee for the FXCRC.
Program coordinator, Sharyn Lincoln, MS, CGC, is a member of the FXCRC's Clinical and Professional Development Committee and Research Committee and serves as a liaison between the two committees. She was central to the development of the data collection forms for the FORWARD Database and is also a member of the FXCRC's Scientific Application Review Committee.
As part of the consortium, our Fragile X Program works to coordinate research from across the nation and around the world, orchestrating projects that allow us to approach fragile X from complementary angles.
A great deal of this research is going on right here at Boston Children’s:
The Fragile X Program at Boston Children’s is one of several hospitals nationwide investigating targeted drugs to correct the genetic and biochemical abnormalities that cause the disorder. People with Fragile X syndrome have excessive activity of a brain protein involved in learning and memory, and preliminary studies suggest that targeting the affected pathways this protein is involved in might help improve cognition and behavior. Currently the Fragile X Program is participating in a clinical trial for an mGluR5 antagonist developed by Novartis. The hope is that the drug will improve cognition and behavior.
Boston Children’s is also participating in a study comparing the function of nerves in the brain between people with and without Fragile X syndrome. The study uses transcranial magnetic stimulation (TMS), a non-invasive tool that allows researchers to examine nerve functioning in the brain. The hope is that the results will help shed light on how nerves in the brain communicate with one another in people with Fragile X and other genetic disorders, such as neurofibromatosis, Noonan syndrome and tuberous sclerosis. The findings can also help researchers determine the effects of new drugs developed to treat the disorder by allowing for comparisons of nerve activity before and after treatment.
The Fragile X Program is also participating in the FORWARD Registry and Database. The registry is for any individual who is part of a family affected by a Fragile X-associated disorder. The goal of the registry is to provide participants with opportunities to become involved in research projects or clinical trials that have been approved by an expert review team. The purpose of the database is to store clinical data about individuals with Fragile X syndrome. When the information is gathered from many individuals with Fragile X syndrome around the country, it will become a valuable tool to help clinicians and researchers better understand Fragile X syndrome across the lifespan.