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…
A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.
A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…
Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…
A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…
A new collaboration will help to speed the analysis, correlation, and publication of data sets from an ongoing natural history study, and a previous similar study in people with Angelman syndrome (AS). The ongoing study (NCT04507997), funded by the U.S. Food and Drug…
A dietary supplement meant to mimic the effects of a ketogenic diet — known to reduce seizure frequency in patients with Angelman syndrome — was well-tolerated by children with the neurological disorder, according to data from a small clinical trial. The trial met its primary goal of assessing the…
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…
Get regular updates to your inbox.