News

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Two patient advocacy groups have joined forces to present a unified voice when interacting with pharmaceutical companies and scientists looking to conduct in Angelman syndrome (AS) research. This initiative of the Angelman Syndrome Alliance (ASA) and Angelman Syndrome Foundation (ASF), called the Global Community Advisory Board, will represent…

Children with Angelman syndrome may be more prone to developing cavities in their teeth, due to the growth of thin enamel with an abnormal protein content, according to a new study. The study, “The effect of Angelman syndrome on enamel and dentin mineralization,” was published in…

OV101 (gaboxadol), designed to improve motor skills, cognition, and memory in people with Angelman syndrome, did not meet its primary goal (endpoint) in Ovid Therapeutics’ Phase 3 NEPTUNE clinical trial, according to top-line results. The…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse model of the disease. The effects of a single administration of the therapy, when delivered before birth, were…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

In-person social engagement is more important for fostering imitative behaviors in children with Angelman syndrome than in typically-developing children, a new study suggests. The study, “Imitation in Angelman syndrome: the role of social engagement,” was published in Scientific Reports. People with Angelman syndrome (AS) typically have abnormal…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

Use of GTX-102, GeneTx Biotherapeutics and Ultragenyx’s investigational therapy for Angelman syndrome, led to substantial improvements in disease symptoms among children and adolescents across several treatment areas — including behavior, communication, sleep, and gross and fine motor function — according to data from the…