After imposing a pause in November 2020, the U.S. Food and Drug Administration has cleared the way for a clinical trial of a gene therapy for Angelman syndrome.
Spectrum: Autism Research News
A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism.
All five participants in a clinical trial of a gene therapy for Angelman syndrome experienced leg weakness, leading sponsors to pause the study.
A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.
The mutation that causes Angelman syndrome makes neurons hyperexcitable, which may explain the frequent seizures that most people with the syndrome have.
Rats missing UBE3A, the gene mutated in people with Angelman syndrome, squeak frequently but tend not to be responsive to the play and squeaks of other rats.
One form of the protein implicated in Angelman syndrome and autism clusters in the nucleus, and it’s this form that may be critical to brain development.
Mice with extra copies of UBE3A, a gene linked to autism and related conditions, are susceptible to death from seizures.