Cambridge-based clinical research organization and Boston Children’s Hospital collaborating on research into rare genetic disorder
CAMBRIDGE, MA, April 24, 2017 - PROMETRIKA, a boutique, full-service clinical research organization, will present initial findings from a Natural History Study of Angelman Syndrome at the American Academy of Neurology (AAN) Annual Meeting in Boston. The event, which is the largest gathering of neurologists in the U.S., will take place April 22-28. The poster presentation is based on research performed in collaboration with Boston Children’s Hospital and will be the first time a longitudinal analysis of this rich data set has been shared.
“We’re honored to have the opportunity to share results from our collaboration with Boston Children’s Hospital at this prestigious event,’ said Miganush Stepanians, Ph.D., President and CEO of PROMETRIKA, who will be presenting along with Nicole LaVallee, Ph.D., the company’s Director of Biostatistics. “Angelman Syndrome is a relatively unknown rare disorder with tragic life-long consequences for patients and their families. We are so pleased to be in a position to be able to assist with work that will help raise awareness about the condition and the role that molecular subtypes play in its expression,” she added.
Angelman Syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. It may be misdiagnosed as cerebral palsy or autism due to lack of awareness of the condition. AS is characterized by symptoms that include developmental delays that begin between 6 and 12 months of age, lack of speech, seizures that often begin between 2 and 3 years of age, and walking and balance disorders. People with AS tend to have happy personalities and are known to smile and laugh frequently. They have normal life expectancies, but the disease cannot be cured and individuals with AS require lifelong care.
The purpose of the analyses being performed by PROMETRIKA and Boston Children’s Hospital is to examine patterns of maladaptive behaviors in individuals with AS over time and to assess the relationship of maladaptive behaviors to molecular subtype and current level of developmental functioning. The poster, titled Maladaptive Behaviors in Individuals with Angelman Syndrome, will be presented on April 28th, 2017.