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A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism — meaning some but not all of his cells harbored an Angelman-causing mutation — according to a case report. The diagnosis followed detailed genetic…

A new mutation in the UBE3A gene associated with Angelman syndrome was described in a recent report and modeling studies suggest the modification interferes with the function of the UBE3A protein by decreasing its ability to interact with ubiquitin, another protein. The study, “Studying Disease-Associated UBE3A Missense…

Ultragenyx will continue clinical development of GTX-102, an investigational treatment for Angelman syndrome, after acquiring GeneTx Biotherapeutics — the company that was developing it — in a $75 million deal earlier this month. The therapy was originally developed in the laboratory of Scott Dindot, PhD, in the…

Most children and adolescents with Angelman syndrome experience problems with sleep and digestive issues such as constipation, a new study highlights. Challenging behaviors such as aggression are generally more common and more severe in these children, which suggests that treating underlying symptoms may help to manage their behaviors. “Findings…

GeneTx Biotherapeutics, a company set up by the Foundation for Angelman Syndrome Therapeutics (FAST), has been acquired by Ultragenyx Pharmaceutical, which will take over the ongoing GTX-102 clinical program for Angelman syndrome. The two companies began working together in 2019, and they jointly launched a Phase…

The investigational gene therapy GTX-102 shows potential to lessen disease severity and improve function in children and adolescents with Angelman syndrome, according to interim data from a Phase 1/2 clinical trial. Six-month follow-up data for 11 patients showed that treatment with GTX-102 resulted in improvements across exploratory…

A newly identified mutation in the UBE3A gene that causes an inherited, severe form of Angelman syndrome was found in two sisters in China, scientists report. While UBE3A mutations are typically associated with milder forms of Angelman, these cases highlight a link between this new mutation and early-onset seizures,…

A Phase 2 trial of NNZ-2591, Neuren Pharmaceuticals’ investigational oral therapy for Angelman syndrome, has started recruiting pediatric patients in Australia. The Australian study — which was also given regulatory clearance in the U.S. — will be conducted at three hospitals in that country: one each in Queensland, New…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

An intervention combining goal-oriented physical therapy with electrical stimulation of the brain via a device placed on the tongue led to marked gains in walking ability and other areas for a child with Angelman syndrome, according to a new report. The study, “Improvement in Gait and Participation…