Because antisense oligonucleotide (ASO) therapies target specific genetic sequences, differences across mammals make it challenging to translate potential Angelman ASO-based therapies from preclinical models to the clinic. GTX-102, an investigational ASO therapy for Angelman syndrome, was specifically designed to be effective in patients and relevant animal models, however.
Certain structures within the brains of children with Angelman syndrome were altered compared with unaffected children of the same age, an MRI study concluded. Imaging found a thinner and more folded outer cortex layer and reduced gray matter volume within the inner subcortex region in Angelman children. More serious…
A novel treatment approach based on zinc-finger DNA-binding proteins, designed to activate the silenced paternal UBE3A gene, successfully eased the signs and symptoms of Angelman syndrome in a mouse model. The strategy also demonstrated efficacy in brain cells derived from an Angelman patient, showing that it can be translated…
The Foundation for Angelman Syndrome Therapeutics (FAST) has given a gift of $5 million to establish the Rush F.A.S.T. Center for Translational Research, intending to train physicians to run clinical trials and deliver therapies requiring specialized delivery and care. Reported to be the first-of-its-kind, the center will be directed…
Behavioral assessments by parents of children with Angelman syndrome and other genetic neurodevelopmental disorders substantially differed from those reported by clinicians, a study revealed. Appraisal of hyperactivity showed the highest agreement between parents and professionals, whereas self-injury behaviors showed the poorest agreement. These findings have implications for clinical trials,…
A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic spectrum of Angelman syndrome and supports genetic counseling for those affected, its researchers said. The study, “…
Early intervention with environmental stimulation appears to have restored motor coordination and behaviors in a mouse model of Angelman syndrome. The protocol was more successful in male mice than in females, suggesting that “slightly different therapeutic approaches may need to be taken with males and females undergoing treatment for [Angelman…
Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help identify and diagnose people with the condition, the researchers said. The study, “Investigation of age-related facial…
A novel dual gene therapy rescued the function of the UBE3A gene in a mouse model of Angelman syndrome, the gene that is faulty in people with the condition, and restored motor-skill learning and essential behaviors, a study has demonstrated. “This was a proof-of-concept study, but if these early…
Epilepsy starting at an earlier age and sleep problems independently predicted increased hyperactivity in Norwegian people with Angelman syndrome, a study concluded. “The results of this study may have potentially important implications for understanding the complex links between hyperactivity, sleep problems and early epilepsy in [Angelman syndrome],” the scientists…
Get regular updates to your inbox.