Navigation Links
Drug Shows Promise Against Fragile X Syndrome, Possibly Autism
Date:9/19/2012

By Randy Dotinga
HealthDay Reporter

WEDNESDAY, Sept. 19 (HealthDay News) -- In a preliminary study, scientists are reporting that an experimental pill designed to treat fragile X syndrome -- a genetic condition tied to intellectual impairment, or "mental retardation," and some cases of autism -- may help patients develop better social skills.

The scientists are continuing to study the medication and have launched research into whether it may also help social withdrawal in those with autism. However, it's still not clear if the drug works, nor do its developers know how much it might cost. It's also not known whether other medications in development might do a better job, either in conjunction with the new drug or instead of it.

Still, the results so far are promising, and the medication "could be an important model for developing treatments for autism," said Dr. Michael Tranfaglia, medical director of the FRAXA Research Foundation, a nonprofit organization seeking better treatments for fragile X syndrome.

Fragile X syndrome is caused by the loss of the gene for fragile X mental retardation protein. The condition affects an estimated 100,000 people in the United States, potentially leading to mental retardation, epilepsy, autism and abnormal body growth. There is no cure for fragile X syndrome.

Essentially, the lack of the gene weakens the wiring of the brain, said Stephen Warren, chairman of human genetics at Emory University School of Medicine in Atlanta. People with the condition usually must live in group homes, although they're often able to work, he added.

Several studies have been launched into the drug -- known as arbaclofen -- as a treatment for fragile X syndrome and related autism-type conditions. The new study was funded by Seaside Therapeutics, the drug's manufacturer, and done jointly by scientists at Rush University Medical Center in Chicago and the MIND Institute at the University of California, Davis. It was the second of three phases of research required for drugs before they can be approved by the U.S. Food and Drug Administration.

In the study, Dr. Elizabeth Berry-Kravis, a professor of pediatrics, neurological sciences and biochemistry at Rush, and colleagues tested the drug over a 15-month period by giving either the drug or an inactive placebo to 63 people between the ages of 6 and 39 who have fragile X syndrome in a six-week treatment. Of those who participated, 55 were boys or men; the condition is more common in males.

Those who took the drug were better able to deal with other people on a social level, said Warren, who didn't work on the new research but has consulted for Seaside Therapeutics. "Their social anxiety was diminished. That's the real problem with these kids. They get real anxious in novel situations, and it's very difficult consequently for families to go out and have a hamburger at a restaurant."

The amount of improvement isn't easily understood on a layperson level. But Dr. Paul Wang, a vice president with Seaside Therapeutics, said families told researchers that children who took the drug were more interested in talking to, and playing with, others instead of staying in their room, for example.

The study appears online Sept. 19 in the journal Science Translational Medicine.

Its release coincides with publication of another fragile X study, a preliminary finding involving research on mice. Neuroscientists at New York University removed the enzyme S6K1, which has previously been shown to regulate protein synthesis in fragile X syndrome mice. And they reported the mice showed both physical and behavioral improvements, although not uniformly.

The study was published in the current issue of the journal Neuron.

"We think these results set the stage for a viable pharmacological approach to target S6K1, with the aim of diminishing or even reversing the afflictions associated with fragile X syndrome," Eric Klann, a professor in NYU's Center for Neural Science and the study's senior author, said in a university news release.

More information

For more about fragile X syndrome, visit the U.S. National Library of Medicine.

SOURCES: Michael Tranfaglia, M.D., medical director, FRAXA Research Foundation, Newburyport, Mass; Stephen T. Warren, professor and chair of human genetics, Emory University School of Medicine, Atlanta; Paul Wang, vice president, Seaside Therapeutics, Cambridge, Mass.; Sept. 19, 2012, Science Translational Medicine; Sept. 19, 2012, Neuron


'/>"/>
Copyright©2012 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Infection data may not be comparable across hospitals, study shows
2. Cleveland Clinic study shows vitamin E may decrease cancer risk in Cowden syndrome patients
3. Study shows breath analysis could help diagnose pulmonary nodules
4. Water quality study shows need for testing at state migrant camps
5. Experimental Dengue Vaccine Shows Some Success
6. Molecule shows effectiveness against drug-resistant myeloma
7. Multiple Methods Can Safely Help Babies Get to Sleep, Study Shows
8. Large lung cancer study shows potential for more targeted therapies
9. Childhood virus RSV shows promise against adult cancer
10. Breast cancer screening saves lives, new study shows
11. Brain Bleeds More Common in Smokers, Research Shows
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Drug Shows Promise Against Fragile X Syndrome, Possibly Autism
(Date:6/26/2016)... ... ... PawPaws brand pet supplements owned by Whole Health Supply is ... of felines. The formula is all-natural and is made from Chinese herbs that have ... Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root Extract ...
(Date:6/25/2016)... ... ... Austin residents seeking Mohs surgery services, can now turn to Dr. Jessica ... Peckham for medical and surgical dermatology. , Dr. Dorsey brings specialization to include Mohs ... Mohs Micrographic Surgery completed by Dr. Dorsey was under the direction of Glenn Goldstein, ...
(Date:6/25/2016)... ... ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his Bachelors in ... School of Medicine at UCLA. He trained in Internal Medicine at Scripps Green Hospital ... at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to train in ...
(Date:6/24/2016)... Los Angeles, CA (PRWEB) , ... June 24, 2016 , ... ... plastic surgery procedures that most people are unfamiliar with. The article goes on to ... known procedures, but also many of these less common operations such as calf and ...
(Date:6/24/2016)... ... June 24, 2016 , ... The ... in Dallas that it will receive two significant new grants to support its ... PHA marked its 25th anniversary by recognizing patients, medical professionals and scientists for ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 ... CAPR ), a biotechnology company focused on ... today announced that patient enrollment in its ongoing ... Duchenne) has exceeded 50% of its 24-patient target. ... in the third quarter of 2016, and to ...
(Date:6/23/2016)... June 23, 2016 , , ... July 7, 2016 , , , , LOCATION: , , ... , , , EXPERT PANELISTS:  , , , Frost & ... Analyst, Christi Bird; Senior Industry Analyst, Divyaa Ravishankar and Unmesh Lal, ... The global pharmaceutical industry is witnessing an exceptional era. Several new ...
(Date:6/23/2016)... June 23, 2016 Revolutionary technology ... Oticon , industry leaders in advanced audiology and ... Oticon Opn ™, the world,s first internet connected ... for IoT devices.      (Photo: http://photos.prnewswire.com/prnh/20160622/382240 ... a number of ,world firsts,: , TwinLink™ ...
Breaking Medicine Technology: