University of Colorado scientists have published the results of a small but encouraging clinical trial of a drug that’s improved the memories of young adults with Down syndrome. It’s the latest finding in one researcher’s 16 year quest that is both personal and scientific.
Alberto Costa’s daughter is 17 years old. But in a way, she’s already middle aged.
“At age 35, 40, every single person with Down syndrome, and I’m talking about 100%, have the pathology of Alzheimer’s in their brain,” says Dr. Costa, a professor at the University of Colorado Medical School.
His years of research on how a third copy of chromosome 21 causes cognitive problems suggest that it’s not just that Down Syndrome patients get Alzheimer’s earlier and more often. Genes on that extra chromosome turn out to change the function of a type of brain receptor called NMDA.
“Contrary to what most people would think,” Costa says, “what we found out is that that receptor seems to be overactive in people with Down Syndrome.”
A drug was already on the market that could tamp activity of the receptor back down: memantine, approved to treat none other than Alzheimer’s. Costa thought the drug could improve the mental abilities of Down Syndrome patients.
"...there was an improvement between 30 and 50 percent..."
He first tested his hypothesis on mice, with success, and then moved to young adults.
Costa found the drug had no effect on most measures of cognitive ability—except for one that asked patients to remember a long list of words.
“In average, there was an improvement between 30 and 50 percent improvement for the group who took memantine,” says Costa.
It’s not quite the slam dunk Costa imagined based on his earlier experiments with mice, but it fits with what he’s learned about memory in Down Syndrome.
“I think the most important question here is whether this will actually translate into a long term benefit for those with Down Syndrome,” says Costa. “And that’s a question that can only be answered with a longer and larger study.”
Until then, Dr. Costa is adamant that the drug shouldn’t be used in people with Down Syndrome. But he’s buoyed by the prospect of being able to do something to help his daughter, and to give hope to other parents when most efforts are focused on prevention, not treatment.
“If I even had that kind of glimmer of hope way back then, 17 years ago,” he says, “I think life would have been a whole lot easier back then.”
