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Supporters worldwide are marking Rett Syndrome Awareness Month, set aside each October to bring attention to Rett syndrome, a rare neurodevelopmental disorder that’s estimated to affect 1 of every 10,000 girls, and fewer boys. From posting on social media to sporting temporary tattoos, participants globally are raising awareness and…
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…
The European Commission has granted orphan drug designation to TSHA-102, an investigational gene therapy for the treatment of Rett syndrome. The designation encourages the development of medicines to diagnose, prevent, or treat life-threatening or debilitating diseases that affect fewer than five in 10,000 people living in the European…
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…
The International Rett Syndrome Foundation (IRSF), an organization focused on accelerating research to treat and cure Rett syndrome, has been appointed to the National Health Council (NHC) Standard of Excellence program. “This is a great honor. It recognizes IRSF’s leadership in advancing treatments and cures for patients…
Abnormally slow or shallow breathing in Rett syndrome develops in part due to altered inhibitory signals in the brain, research done in a rat model of the disease suggests. Data also indicate that therapeutic approaches that amplify the brain’s inhibitory signals might be useful for Rett-related breathing problems. These…
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…
Participating in school virtually — using a computer with a webcam — is socially and cognitively engaging for people with Rett syndrome, according to a study in Italy. This finding “supports the idea that the children with RTT [Rett syndrome] can benefit from the use of technology-aided programs, such…
Acadia Pharmaceuticals is launching an open-label clinical trial of its oral investigational medication trofinetide in toddlers and young girls with Rett syndrome, the company announced in a letter to the Rett community. The 12-week Phase 2/3 trial, called DAFFODIL (NCT04988867), aims to enroll about 10 children, ages 2…
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