Featured Research

from universities, journals, and other organizations

Promising New Drug Being Evaluated As Possible Treatment Option For Fragile X Syndrome

Date:
January 8, 2009
Source:
Rush University Medical Center
Summary:
A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome. Findings of the open label, single-dose study are to be published in the Journal of Medical Genetics.

A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose study by researchers at Rush University Medical Center and the University of California, Davis, Medical Center are to be published in the upcoming January issue of the Journal of Medical Genetics.

Related Articles


Results of an initial evaluation of the safety of fenobam, which is an mGluR5 antagonist, in adult males and females with Fragile X syndrome showed there were no adverse side effects from the medication.

"This is the first study assessing the safety and pharmokinetic metabolism of an mGluR5 antagonist in humans with Fragile X syndrome," said Dr. Elizabeth Berry-Kravis, pediatric neurologist at Rush and principal investigator of the study. "Also, some patients showed calmed behavior and rapid reduction in hyperactivity and anxiety, similar to effects of the drug in mouse models."

Fragile X syndrome is the most common inherited cause of mental impairment and the most common known cause of autism. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control). About 1 in 259 women carry fragile X and could pass it to their children. About 1 in 800 men carry fragile X; their daughters will also be carriers. Symptoms of Fragile X syndrome include mental impairment such as learning disabilities, attention deficit, hyperactivity, autistic-like behaviors, and anxiety and unstable mood.

Fragile X syndrome is caused by lack of activity of the FMR1 gene, which is responsible for a protein called FMRP. Without FMRP, activation of cell pathways by a brain receptor protein called mGluR5 goes unchecked, and it has been theorized that this plays an important part in Fragile X syndrome.

To test this theory, past researchers have used laboratory mice without an active FMR1 gene, like in Fragile X syndrome, but with a reduced amount of mGluR5 protein. The mice showed an improvement in their brain structure and function, in their brains' ability to make key proteins, and in memory and body growth. This shows that the over-activation of mGluR5 is very important in Fragile X syndrome, and suggests a path for drug development to treat the syndrome.

In the current study, twelve participants recruited by Rush and the University of California, Davis received a single oral dose of 50-to-150 mg of fenobam. Prepulse inhibition (PPI) and continuous performance test (CPT) were obtained before and after dosing to explore the effects of fenobam on measures of sensory gating, attention and inhibition. In six of the 12 individuals there was a 20 percent improvement.

"Currently, there are no therapies on the market to treat cognitive deficits associated with Fragile X syndrome," said Berry-Kravis. "This pilot study has identified the potential beneficial clinical effects of fenobam, but further research is needed."


Story Source:

The above story is based on materials provided by Rush University Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Rush University Medical Center. "Promising New Drug Being Evaluated As Possible Treatment Option For Fragile X Syndrome." ScienceDaily. ScienceDaily, 8 January 2009. <www.sciencedaily.com/releases/2009/01/090107092716.htm>.
Rush University Medical Center. (2009, January 8). Promising New Drug Being Evaluated As Possible Treatment Option For Fragile X Syndrome. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2009/01/090107092716.htm
Rush University Medical Center. "Promising New Drug Being Evaluated As Possible Treatment Option For Fragile X Syndrome." ScienceDaily. www.sciencedaily.com/releases/2009/01/090107092716.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins