Margarida Maia, PhD,  science writer—

GTX-102, a gene therapy for Angelman syndrome, continues in a clinical trial to be safe and show benefit when taken for over a year, with the longest period being nearly two years, according to its developer, Ultragenyx Pharmaceutical. No new serious side effects or reports of leg weakness…

The diuretic bumetanide helped to improve cognition and lengthen the time to a seizure in a mouse model of Angelman syndrome, according to a new study from Japan. Bumetanide worked by blocking NKCC1, a protein that regulates the flow of chloride and other electrolytes in the body, all key in…

The U.S.-based Angelman Syndrome Foundation (ASF) and the Canadian Angelman Syndrome Society (CASS) have partnered up to broaden their reach and expand their offerings within the Angelman community. As part of the team-up, CASS has changed its name to Angelman Syndrome Foundation Canada (ASF Canada). By working together,…

Breaking into a smile may hold the attention of people with Angelman syndrome (AS) for longer than just holding a neutral face, a study suggests. However, while positive facial emotions were attention-grabbing, people with AS didn’t spend as much time looking at them as did children who did not…

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…

Researchers brought a message of hope for the Angelman syndrome community as they discussed advances in treatment and scientific knowledge at the recent 2021 FAST Global Science Summit and Gala in Austin. Hosted by the Foundation for Angelman Syndrome Therapeutics (FAST), the annual event is an opportunity for members…

A first patient in the U.K. has been dosed in the resumption of a Phase 1/2 clinical trial evaluating the safety of the gene therapy GTX-102 in children and adolescents with Angelman syndrome. The open-label study (NCT04259281), known as KIK-AS, is being run at Oxford University and is also underway…

Four foundations are collaborating to fund the addition of Angelman syndrome and other conditions caused by changes on chromosome 15 to Early Check, a free, voluntary study that screens newborn babies in North Carolina for rare diseases. These foundations include the Foundation for Angelman Syndrome Therapeutics (FAST), the Angelman…

The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 study testing GTX-102 — an investigational therapy by GeneTx Biotherapeutics and Ultragenyx Pharmaceutical — in children and adolescents with Angelman syndrome. GeneTx is now cleared to begin dosing treatment-naïve patients — those who have never received…

Neuren Pharmaceuticals is a step closer to Phase 2 clinical testing of NNZ-2591, its investigational therapy for Angelman syndrome, Phelan–McDermid syndrome, and Pitt Hopkins syndrome, after the company received clear and constructive guidance from the U.S. Food and Drug Administration. All three syndromes are early…