Friday, February 01 2013
by Brigid O'Connell, Herald Sun, February 1, 2013.
Max Smith is one of Victoria's 400 ever-smiling "little angels".
Children with the rare genetic disorder Angelman Syndrome have a trademark wide smile and ready laugh, despite enduring severe seizures, speech impairments and developmental delays.
But new clinical trial results, to be released today at a conference in Melbourne, will reveal that an acne medication is being used to reduce the devastating symptoms with great success.
Preliminary results from a US first-phase trial using the common antibiotic minocycline have shown improved behaviour, attention and communication in children with Angelman Syndrome. University of South Florida molecular researcher Dr Edwin Weeber said it was believed that the drug worked by increasing communication between neurons in the brain.
"We thought the deficiencies in Angelman Syndrome happened in utero, but we're now realising that the brain is intact, the wiring of the brain is correct but there is an overall reduction in communication in the brain," Dr Weeber said.
The conference, run by the Foundation for Angelman Syndrome Therapeutics Australia, will plan how to bring the next expanded phase of the trial to Australia. It's estimated that one in about 15,000 children will be diagnosed with the disorder, but many are wrongly diagnosed with cerebral palsy or autism.
Max's mother, Anne Murphy, said after finally being able to control his seizures and establishing regular sleep patterns, the positive findings from the trial had made up her "wish list".
"I love Max the way he is. I don't want his happy personality to change, but anything that improves his quality of life and communication would be fantastic, "she said.