Joana Carvalho, PhD, managing science editor —

Use of GTX-102, GeneTx Biotherapeutics and Ultragenyx’s investigational therapy for Angelman syndrome, led to substantial improvements in disease symptoms among children and adolescents across several treatment areas — including behavior, communication, sleep, and gross and fine motor function — according to data from the…

Adolescents and adults with Angelman syndrome have a poor overall health-related quality of life (HRQoL) compared to the general population in the U.S., according to an exploratory analysis of a Phase 2 clinical trial. The analysis also revealed that self-care activities is the HRQoL domain most affected by…

Lixte Biotechnology Holdings is teaming up with the Foundation for Angelman Syndrome Therapeutics (FAST) to advance preclinical studies investigating its proprietary lead compound, LB-100, as a potential treatment for Angelman syndrome. The studies will be led by David Segal, PhD, and Jill…

High activity levels of the UBE3A gene in immune cells is linked to poorer fine motor and language skills in people with Angelman syndrome (AS) and more severe autistic features in those with Prader-Willi syndrome (PWS), a study reported. According to its researchers, these findings suggest that inflammatory cascades and changes…

Despite being relatively healthy, adults with Angelman syndrome should be carefully monitored, particularly for weight control, vision and gastrointestinal issues, behavioral and sleep problems, and epilepsy, a study suggests. According to its authors, findings from this study, reported to have enrolled the largest and oldest group of adults with…

Clinicians should consider mosaic Angelman syndrome in the differential diagnosis of people who show milder symptoms of the disorder, a study suggests. The study, “Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome,” was published in Molecular Genetics & Genomic Medicine. Angelman syndrome (AS) is…

Blocking the activity of sodium-potassium ATPase, an enzyme that is essential in maintaining ion balance in all types of cells, can restore calcium dynamics and other abnormal neurological features in a mouse model of Angelman syndrome (AS), a study has found. The study, “α1-Na/K-ATPase inhibition rescues aberrant…

The National Institutes of Health (NIH) has awarded two grants totalling $6.1 million to support two research projects: one focused on the development of a new gene therapy for Angelman syndrome, and the other on understanding how genetic defects in UBE3A (the gene that causes Angelman) may…

Spaced training interventions may be used to minimize learning impairments associated with neurological disorders, including Down and Angelman syndrome, a mouse study has found. The results, “Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities,” were published in Translational Psychiatry. In psychology…

Treatment with cannabidiol reduces seizures and abnormal electric brain activity in mice with Angelman syndrome (AS), supporting its use as an anti-seizure treatment for patients, a study finds. The study, “Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice,” was published in bioRxiv, a…