Author Archives: Margarida Maia PhD

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…