News

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…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Sleep disturbances in people with Angelman syndrome may be at least partly associated with iron deficiency, according to a small study in the U.S. The data also showed that supplementation with the mineral, which also is naturally present in many foods, improved the sleep quality of children…

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…