Local Group Funds Clinical Trial for Angelman Syndrome Treatment

The study will evaluate the effectiveness of an FDA-approved antibiotic in treating symptoms of the rare genetic disorder.

A day many parents of children with Angelman syndrome never thought they would see is now just a few weeks away.

In March the University of South Florida will begin a clinical trial in humans of a drug shown to treat symptoms of Angelman syndrome in mice. 

The study will be funded by the Foundation for Angelman Syndrome Therapeutics, which was founded by Darien’s Paula Evans, whose , was born with AS. 

Until recently AS was thought to be an incurable genetic disorder that impacted children’s speech and motor skills. It also causes devastating seizures. The syndrome manifests when a single gene on the maternal 15th chromosome is either absent or fails to switch on. 

But despite that prognosis, Evans said she was always determined to fight for Ainsley’s ability to live a more typical life. 

"I believe the very definition of being a parent is having hope,” Evans said. “Hope for the very best of everything for your child. Strangely, when I received my daughter's diagnosis of Angelman syndrome, my hope for her was not diminished but was in fact strengthened.”

Researchers believe there is nothing inherently wrong with children who have AS—they just need that absent gene to tell all the parts how to work.

Within the past year USF researchers, led by neuroscientist Edwin Weeber, found the drug minocycline effectively treated motor issues related to AS in mice. Minocycline, which is in the same family as tetracycline, is already FDA approved as an antibiotic used to treat bacterial infections in humans. The most widely known side effect is that it can permanently cast a grey shade on children's teeth.

The trial is scheduled to run from March through November. The lab will randomly select 24 participants from among applicants between the ages of 4 and 12 who have a molecularly confirmed AS diagnosis.

"This study has the potential to play a much-needed role in improving the core symptoms of Angelman syndrome and helping patients and families achieve an improved quality of life," said Weeber, who will be running the trial, in a statement.

Actor Colin Farrell, the Dwight Stuart Youth Fund and the J Cox Family Foundation have donated $24,000 to help families travel to Florida for the trial. Farrell’s 8-year-old son, James, was born with AS. 

Farrell offered his perspective about therapies that could improve AS symptoms when he in December.

“It doesn’t mean that I think there’s anything wrong with James,” he said. “It doesn’t mean I have any doubts about the foundation of his spirit. The foundation of his heart and the foundation of his mind are better and purer than mine will ever be. But there are aspects to his physical self that don’t do him any favors.” 

FAST won $250,000 last summer in the , in which people voted for various charities through Facebook. The grant, remarkably, was almost exactly the amount of money needed to fund a minocycline trial. 

“Three years after the formation of FAST, the news of a clinical trial on a potential treatment for Angelman syndrome is in itself my hopes being realized,” Evans said. “We are well on our way to removing the many challenges our children face each and every day. There is still work to be done, but we are on our way." 

For more information on the trial, visit clinicaltrials.gov or http://www.cureangelman.org/news/ClinicalTrial/ClinicalTrial.html.

Jane February 16, 2012 at 01:11 AM
Its very sad when families who have genetic syndromes are given false hope about "cures"...these treatments may ameliorate symptoms, improve motor function, improve cognition, perhaps even the ataxia, but a "cure" for missing the UBE3A gene via antibiotics, is not likely. I just hope the trials helps these children, but I hope the families stay grounded, and not get their hopes up about a cure, because the upset will be devastating. Wishing you all the best!
wjcgirl@hotmail.com February 16, 2012 at 04:13 AM
Jane, Have you researched Angelman Syndrome and do you know about the potential for a "cure" or effective treatment for this disorder? I feel you should be more careful with your words. You know parents of children with Angelman Syndrome will read this article and your comment. Your comment talks down to all of us. We have hope. Hope for a better future for our children. Hope for an end to the terrible seizures that the vast majority of them face. And the "upset" will never happen because the hope will endure. To quote Colin Farrel "Hope Reigns Supreme." Becky Clubbs Mom to Talmage, 2 years old, Angelman Syndrome, Deletion Positive
David February 16, 2012 at 09:00 PM
I know what Angelman syndrome is, I have done a lot of research and I did not intend to talk down to the parents of children with this syndrome--- but I do wish the researchers would be careful about anouncing a new trial by saying that this will be the "cure" when in fact, they do not even know the true function of the UBE3A gene in the brain. So while I have hope that the new trials will help ameliorate the symptoms, I also hope that parents stay grounded. Hope can reign supreme, but false hope can be devastating to a family.
wjcgirl@hotmail.com February 16, 2012 at 11:06 PM
Jane/David, I was overly emotional last night when I wrote my response as your comment rubbed me the wrong way. Dr. Weeber has never said that this will be a cure for Angelman Syndrome. He appears hopeful that it will treat some of the symptoms, but has never presented it as a cure. It is a potential treatment. This article does not say it will be a cure, so I'm not sure where you got that. Anyway, I think you can be assured that the AS families have been given good information. We all know that time and the clinical trial is the true test. If you are outside of the AS family, thank you for your concern and taking the time to educate yourself on this rare disorder. We appreciate it. Becky Clubbs Mom to Talmage, 2 years old, Angelman Syndrome, Deletion Positive
Jerome February 20, 2012 at 01:31 AM
Best of luck to the AS families!
Amy September 01, 2012 at 04:14 PM
Good luck! I'm hoping it will help! My son also has angelman he is two. Amy


More »
Got a question? Something on your mind? Talk to your community, directly.
Note Article
Just a short thought to get the word out quickly about anything in your neighborhood.
Share something with your neighbors.What's on your mind?What's on your mind?Make an announcement, speak your mind, or sell somethingPost something