GTX-102, Ultragenyx’s investigational gene therapy for Angelman syndrome, improved cognition for participants in a Phase 1/2 trial after up to three years of treatment. Most patients also saw clinically meaningful improvements in one or more key areas, including communication, motor function, sleep, and behavior. The data support starting…
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Rebecca Burdine, PhD, a professor at Princeton University, received two awards for her contributions to Angelman syndrome research. The Angelman Syndrome Foundation awarded Burdine the 2024 Harry and Audrey Angelman Award for Meritorious Service. The award, named for Harry Angelman, the doctor who first formally described Angelman syndrome,…
The Angelman Syndrome Foundation (ASF) and the Dup15Q Alliance have designated the Chromosome 15 and Related Disorders Clinic at Children’s Hospital Colorado as a center of excellence, a recognition of the comprehensive care the clinic provides to those…
Anxiety and repetitive behaviors are significant predictors of sleep problems among children and adolescents with Angelman syndrome, according to a new study using global registry data. Language and communication difficulties and challenging behaviors also were linked to sleep problems in these patients. “Future research needs to replicate this research…
Ionis Pharmaceuticals’ investigational Angelman syndrome treatment ION582 demonstrated a favorable safety profile and lessened overall symptoms in patients participating in the HALOS clinical trial. That’s according to six-month follow-up data from part one of Phase 1/2 study (NCT05127226), which tested three doses of ION582 — low, medium and…
Note: This story was updated Aug. 13, 2024, to correct the spelling of the measure of cognitive development to Bayley-4. Authorities in both the U.S. and Europe have provided positive feedback to Ultragenyx Pharmaceutical regarding plans for a Phase 3 clinical trial testing its gene therapy candidate GTX-102…
A molecule dubbed (S)-PHA533533 is able to increase the expression of the UBE3A protein in mouse and human cell models of Angelman syndrome, a new study shows. “We still have a lot of work to do before we could start a clinical trial, but this small molecule provides an…
Children with Angelman syndrome have diminished bone health — which continues to decline with age — compared with their peers in the general population, according to a study by researchers in the Netherlands. Deletions in the UBE3A gene as the cause of disease, as well as immobility, late onset…
The translation into other languages of the Global Angelman Syndrome Registry (GASR) website has substantially boosted global participation by families affected by Angelman syndrome, a study shows. Researchers say adopting multiple languages “helps build and maintain engagement with global disease communities.” The approach could also serve as an…
A previously unreported mutation in the UBE3A gene was found to be the cause of Angelman syndrome for two sisters. The sisters’ journey to obtaining a correct diagnosis was detailed in a paper, “Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters…
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