Currently, there are no FDA approved medications for treating fragile X syndrome. That may soon change, thanks to a $11.5 million NIH grant awarded to UC Davis Medical Center. The new funding will allow researchers to test a new drug that is designed to improve language learning for children with fragile X syndrome. UC Davis is one of only two medical centers approved for the drug trail in the nation. Since UC Davis Medical Center is home to the renowned MIND Institute, which hosts the Fragile X Research and Treatment Center, it is a logical choice for the treatment study.
(Image courtesy of Peter Saxon via Wikimedia Commons)
What is Fragile X:
Fragile X syndrome (FXS) is the most commonly known cause of intellectual disability that can be inherited. It affects about 1 in 4,000 boys and 1 in 7,000 girls. FXS can cause a range of learning disabilities, severe intellectual impairment, and can impair a person’s ability to communicate. It is the most commonly known single-gene cause of autism or autistic like behaviors.
Fragile X is caused when a gene on the X chromosome called FMR1 does not work properly. This gene makes a protein that is necessary for normal brain development. Because the FMR1 gene malfunctions, the protein is not made so the brain does not develop as it should.
Upcoming Drug Trial
A drug trial will be conducted at the UC Davis Mind Institute and Rush University Medical Center. The principal investigator for the study at UC Davis is Dr. Randi Hagerman, Medical Director of the MIND Institute, and Director of the Fragile X Research and Treatment Center. In an article for the UC Davis Health System Newsroom, she explains that this, “randomized, double-blind study will examine if the drug AFQ056 can enhance neural plasticity in the form of language learning in young children with fragile X syndrome.”
In animal models with fragile X, AFQ056 successfully targeted a specific glutamate signaling problem in the brain that is a direct result of the genetic defect. This improved synaptic connections and signaling between neurons, which in turn improved learning and memory.
Researchers plan to enroll 100 participants with fragile X between the ages of 32 months to six years. It is hoped that AFQ056 will improve language learning in young children with FXS compared to just speech/language therapy alone.
All participants will be evaluated by speech-language therapists who will analyze and measure changes in language skills in response to the intervention, as well as deliver language therapy sessions to the family. After the first year, children who received the placebo and language therapy will be enrolled in the extension phase of the trial, in which all participants will be treated with AFQ056. Besides determining the effects on communication and learning in children with FXS, the study will also evaluate the drug’s safety and determine the most effective dose.
This is a first of its kind study that will evaluate whether a medication aimed at reducing a core defect of the brain can help children with fragile X. If it’s successful it could serve as a new model for the development of medications that work directly on the brain in other genetic disorders.
Upcoming Technical research Product Event at UC Davis Medical Center:
On Wednesday, January 18th, 2017 Biotechnology Calendar Inc. will host the 19th Semiannual BioResearch Product Faire™ at UC Davis Medical Center. Researchers are invited to attend the trade fair for free. Get more information and preregister here:
This event allows laboratory equipment suppliers to meet face to face with UC Davis researchers and discuss their equipment needs. It is a great place for laboratory and chemical supply companies to demonstrate their latest products to science professionals. Those interested in attending should click the link below or call (530) 272-6675 for more information.