News

Adolescents and adults with Angelman syndrome have a poor overall health-related quality of life (HRQoL) compared to the general population in the U.S., according to an exploratory analysis of a Phase 2 clinical trial. The analysis also revealed that self-care activities is the HRQoL domain most affected by…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

Neuren Pharmaceuticals has begun manufacturing of NNZ-2591, an investigational treatment for Angelman syndrome and other diseases, for use in Phase 2 clinical trials. NNZ-2591 is an analogue of cyclic glycine proline (cGP), a peptide (small protein) that naturally exists in the brain and is important for…

Healx and the Foundation for Angelman Syndrome Therapeutics (FAST) are partnering to identify new therapies for Angelman syndrome from among already-approved and available medications, according to a company press release. Finding new uses for old medications — a process called drug repositioning or repurposing —…

Lixte Biotechnology Holdings is teaming up with the Foundation for Angelman Syndrome Therapeutics (FAST) to advance preclinical studies investigating its proprietary lead compound, LB-100, as a potential treatment for Angelman syndrome. The studies will be led by David Segal, PhD, and Jill…

Parents of children with Angelman syndrome think gene therapy trials to find a cure should be a priority and should focus on neurological symptoms as well as communication and motor skills, an online survey reveals.  Compared to a group of parents of…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…