News

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…

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…

Stronger brain wave abnormalities are significantly associated with more severe cognitive, motor, and communication symptoms and earlier seizure onset in children and adolescents with Angelman syndrome (AS), a study shows. These findings support brain activity abnormalities as a core Angelman feature, and they support the use of electroencephalography (EEG) as…

Angelman syndrome families in the United Kingdom may now request financial support for items — like tablets or adaptive equipment — that could improve a patient’s life quality under an expansion of the Angelman Syndrome Foundation (ASF) Family Fund. The ASF fund was opened in 2019 to help…

A novel dual gene therapy rescued the function of the UBE3A gene in a mouse model of Angelman syndrome, the gene that is faulty in people with the condition, and restored motor-skill learning and essential behaviors, a study has demonstrated. “This was a proof-of-concept study, but if these early…

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…