Rush Awarded $11.5 Million for Fragile X Research

Monday, December 12, 2016

(CHICAGO) – Rush University Medical Center was awarded an $11.5 million grant by the National Institutes of Health to conduct a Phase II national clinical trial for children with fragile X syndrome. The four-year study will be led by Rush and the UC Davis MIND Institute. 

Fragile X syndrome is a single-gene disorder and the most common inherited cause of intellectual disability, with effects ranging from learning disabilities to severe intellectual impairment. Fragile X syndrome also is the most commonly known single-gene cause of autism or “autisticlike” behaviors. Fragile X syndrome affects one person in 4,000 worldwide.

“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,” said Dr. Elizabeth Berry-Kravis, study principal investigator and pediatric neurologist at Rush.

“Fragile X impairs a child’s ability to communicate such as by use of gestures, eye contact, vocalizations, words and word combinations,” Berry-Kravis said.

“This drug therapy could potentially improve language learning in young children with fragile X syndrome compared to just speech/language therapy alone,” Berry-Kravis said. “The drug targets a specific glutamate signaling problem in the brain of animal models with fragile X that is a direct result of the genetic defect. In the animal models it improves synaptic connections and signaling between neurons, with resultant effects on learning and memory.”

“There is a great need to improve cognition early in development in fragile X syndrome, and this unique study combines a targeted treatment for this disorder with intensive language intervention,” said Randi Hagerman, the principal investigator for the study at UC Davis. “The 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.” 

Participants will be randomized and either receive the drug therapy or a placebo for the initial period of about a year. The study is looking to enroll 100 participants with fragile X syndrome between the ages of 32-months to six years of age.

All participants will be evaluated by speech language therapists in order to analyze and measure change in language skills in response to the intervention as well as to deliver the language therapy sessions to the family.  Participants who receive the placebo ad language therapy will be enrolled into the extension phase in which all participants will be treated with the active drug.

“The goal of this study is to see if this drug therapy could improve communication and learning in children with fragile X syndrome as well as determine the safety and most effective dosing of the therapy on neural plasticity (brain wiring), which is the core deficiency in fragile X,” said Berry-Kravis. “The study will be the first of its kind to evaluate whether a treatment aimed at improving a core defect of brain connectivity in the disease can change the ability to learn in young children with fragile X syndrome. If successful this study could be a new model for development of medications that work directly on brain mechanisms in other genetic disorders affecting development and learning.”

Leonard Abbeduto, director of the UC Davis MIND Institute and co-leader of the research at UC Davis, said it will not only help participating families, but also change how the field conducts clinical trials of new drugs for people with intellectual and developmental disabilities.

“We hope future trials will try to pair drugs with behavioral and education programs to produce larger synergistic benefits for families,” he said.

The study was funded by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under award number U01NS096767. 

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