News

After the pandemic resulted in last year’s fundraiser being an online experience, the Foundation for Angelman Syndrome Therapeutics (FAST) will be hosting its annual Global Science Summit and Gala in Austin, Texas, Dec. 3–4. As FAST’s signature fundraiser, the event is a chance for the Angelman syndrome…

Epileptic seizures occur earlier and more frequently, leading to more hospitalizations, in children with Angelman syndrome due to a missing UBE3A gene, according to a retrospective analysis of a natural history study. The study, “Clinical Characterization of Epilepsy in Children With Angelman Syndrome,” was published in the journal…

Epilepsy starting at an earlier age and sleep problems independently predicted increased hyperactivity in Norwegian people with Angelman syndrome, a study concluded. “The results of this study may have potentially important implications for understanding the complex links between hyperactivity, sleep problems and early epilepsy in [Angelman syndrome],” the scientists…

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 first patient has been dosed in Canada as part of a Phase 1/2 clinical trial of the investigational therapy GTX-102 in children and adolescents with Angelman syndrome. The open-label KIK-AS trial (NCT04259281), which is also underway in the U.S. and U.K., has enrolled three other patients who are scheduled to…

In their continued efforts to improve health equity for people with rare diseases, Global Genes and RARE-X have joined forces to help advocacy groups collect patient data and make the most of that information. “Patient data is perhaps the most valuable asset rare disease communities can leverage to…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

Families of Angelman syndrome (AS) patients in the U.K. have a new resource to help pay for items they could not otherwise afford, thanks to a new partnership between the Angelman Syndrome Foundation (ASF) and Angelman UK. The partnership, which includes the Canadian Angelman Syndrome Society…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

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…