News

Results of KIK-AS Angelman gene therapy study due 1st half of year

The Phase 1/2 KIK-AS clinical trial, which is testing the experimental genetic therapy GTX-102 in children with Angelman syndrome, has finished enrolling patients. With 74 enrolled, including 53 in dose-expansion groups, the therapy’s developer Ultragenyx Pharmaceutical said results will be available in the next few months. “With completion…

Shared mission to rally support for International Angelman Day

Supporters globally are poised for International Angelman Day (IAD), set aside annually on Feb. 15, to call attention to Angelman syndrome and the 500,000 people globally estimated to be affected by the complex neurological disorder. In addition to spreading awareness about Angelman, the event seeks to unite and mobilize…

FAST, UPenn team to advance gene therapy candidate for Angelman

The Foundation for Angelman Syndrome Therapeutics (FAST) has teamed up with the University of Pennsylvania to develop an investigational gene therapy for Angelman syndrome. The nonprofit has sponsored preclinical research at the Gene Therapy Program at the University of Pennsylvania since 2017 to develop a gene therapy…

Insomnia common and troubling sleep problem: Angelman parents

Among the many sleeping problems facing children with Angelman syndrome, insomnia and the circadian rhythm disturbances that fracture sleep are the most frequent and troublesome, according to a survey of parents and caregivers. Sleep disturbances affect a child’s behavior at home and school, the adults noted, while depriving parents…

MENA Angelman Association opens in Dubai with aim to help patients

The first patient organization for those living with Angelman syndrome in the Middle East and North Africa — a geographic region commonly known as MENA — has been established in Dubai, in the United Arab Emirates. The MENA Angelman Association will cover more than 20 countries with an area of…

Ube3a protein helps regulate brain connections during development

The protein Ube3a, whose defect causes Angelman syndrome, helps regulate connections between brain cells during development. That’s according to the study, “Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling,” which was published in Science. “Our findings reveal the physiological role of Ube3a…