Angelman Syndrome News – The Web's Daily Resource for Angelman Syndrome News

• Children’s Colorado clinic named Angelman center of excellence October 2, 2024
  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 with Angelman syndrome and its involvement in research. The designation is given to health institutions capable of delivering […]
• Overcoming fear after an Angelman syndrome diagnosis September 10, 2024
  At 11:12 a.m. on Christmas Eve last year, I sent a text. Our son, Jude, had just turned 1, and over the past four months we’d become increasingly worried that he wasn’t meeting his developmental milestones. He was a month away from being assessed for cerebral palsy (a common misdiagnosis for Angelman syndrome) and three […]
• Anxiety, repetitive behaviors predict sleep problems in Angelman September 4, 2024
  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 and to advance clinical treatment of […]
• Angelman syndrome treatment ION582 eases symptoms: Trial data August 7, 2024
  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 high — injected directly into the spinal canal […]
• Here comes the sun after our son’s Angelman syndrome diagnosis August 6, 2024
  Nothing can prepare you for the beautiful and chaotic roller coaster of raising a child. For a brief moment, we felt as though the path we’d expected to follow went completely off course when we learned our one and only child would live a life of significant disadvantage. My name is Joelene Wand, and I’m […]
• Pivotal Phase 3 trial of GTX-102 expected to launch by year’s end July 25, 2024
  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 in people with Angelman syndrome. Now, having completed […]
• Did living with Angelman syndrome make me a minimalist? July 18, 2024
  As the caregiver to my 14-year-old daughter, Juliana, I’ve learned a precious life lesson that helps me function better while living with Angelman syndrome. What’s the lesson? It’s that I can’t live my life like everyone else. Years ago, when I realized this, my world got simpler. This realization isn’t a sad mantra stating what […]
• Small molecule shows promise as Angelman syndrome treatment July 10, 2024
  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 excellent starting point for developing a […]
• Children with Angelman have reduced bone health, study finds July 3, 2024
  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 of puberty, and a history of […]
• Translating Angelman patient registry boosted participation June 5, 2024
  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 example for other rare disease registries that […]