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Measuring The Cognitive Improvement Of A Fragile X Treatment

October 1, 2013

Karen Riley, Ph.D

Karen Riley, Ph.D

When Lisa Kowal signed up her 18-year-old son Alex for a clinical trial of a new treatment for Fragile X Syndrome, she knew the 9 ½ hour drive from her home in Buffalo, NY to the test site at Rush University Medical Center in Chicago would be challenging.  As a common symptom of Fragile X, the most prevalent cause of autism, Alex could sometimes become aggressive and violent, making safety a concern during the long trip.

However, as Lisa recalls, Alex’s approved drug therapy was not helping and the Kowals were willing to take a chance on a new treatment.  Now, after the success of initial clinical trials, patients like Alex are learning to try new activities, including a unique reading program that also measures cognition improvement, developed by researchers at the University of Denver and Cogstate.

Fragile X Syndrome, caused by a defect in the gene FMR-1 (Fragile X Mental Retardation – 1), affects 1 in 4000 males and 1 in 6000 females.  Its symptoms include:

  • intellectual disabilities, ranging from mild to severe
  • attention deficit and hyperactivity, particularly in young children
  • anxiety and unstable mood
  • autistic behaviors
  • sensory integration problems, such as hypersensitivity to loud noises or bright lights
  • speech delay, with expressive language more severely affected than receptive language
  • seizures (epilepsy) affect about 25% of people with Fragile X

While there currently is no cure, there are several treatments to help with the symptoms.  However clinical research, funded in part by the FRAXA Research Foundation, is entering Phases II and III to provide a treatment for the underlying disorder, rather than just the symptoms. The current line of research is based on the mGluR (metabotropic glutamate receptors) Theory of Fragile X.

During these clinical trials, Dr. Karen Riley, interim dean and associate professor in the Morgridge College of Education at the University of Denver, saw an opportunity to combine technology with learning as a measure of progress for Fragile X patients.  She designed a learn-to-read application specifically for patients with Fragile X to not only help their vocabulary but also to measure their cognition during their clinical trials with these new drug regimens.  Dr. Riley asked Judith Jaeger, Professor of Clinical Psychiatry and Behavioral Sciences at Albert Einstein College of Medicine in New York and Vice President of Clinical Trials at Cogstate, to help with the project.

Judith Jaeger

Judith Jaeger

“Cogstate was approached by Professor Riley and Novartis with a novel idea; they wanted to test the effects of a drug on the ability of young men with Fragile X Syndrome to learn to read,” said Jaeger. “The idea is that if the drug is beneficial for this developmental disability, one of the ways this might manifest is in improved acquisition of skills. However the study team wanted the skills that these young men learn to be useful to them.”

The iPad application, developed based on Dr. Riley’s design by Cogstate’s software development team, teaches 120 words using electronic flash cards in three different types of exercises; matching, identifying and naming.  Parents or caregivers can administer the learning sessions and results will be uploaded to a central repository for research.

This study won’t make use of any of Cogstate’s computerized cognition tests, however Dr. Jaeger was pleased to consult on the design of the application and the operational component of the research.

“We view ourselves as a science company that makes use of technology to advance science. We are excited that Dr. Riley and Novartis have turned to Cogstate for our understanding of cognition and technology in clinical trials to collaborate in the creation a of new iPad app designed especially for this population,” said Jaeger.

A poster describing the research will be displayed at this week’s FRAXA Investigator’s Meeting in Southbridge, MA.

According to Lisa Kowal, this research has been well worth the miles, “The most important thing that this clinical trial has done for us is that for the first time in his life, Alex is happy.”

Questions or comments? Please contact Dan Peterson