Impaired function of the MeCP2 protein — the most common cause of Rett syndrome — causes defects in a process called RNA splicing, affecting protein production from genes important for nerve cell communication. The study with that finding, “Rett syndrome linked to defects in forming the…
Novartis announced it is scrapping plans to move OAV201, an investigational gene therapy for Rett syndrome, into clinical trials. “The totality of the pre-clinical data [on OAV201] does not support a path forward to human clinical trials,” according to the company’s third quarter report for this year.
Hive Networks, a digital health company, is teaming up with the International Rett Syndrome Foundation (IRSF) to provide a cloud platform to support patients, caregivers, and researchers in the Rett community. The multi-year partnership — being announced in the midst of Rett Syndrome Awareness Month — aims to…
Binding to the zinc finger protein 483 (ZNF483) may move the MeCP2 protein — defective in most cases of Rett syndrome — away from the cell nucleus, which likely affects gene activity in nerve cells, a lab study suggests. These findings shed light on the potential processes regulating the…
A comprehensive communication intervention package improved the expressive communication and/or visual attention of three women with Rett syndrome, a small study shows. These findings suggest that the intervention — which combined aided language modeling (ALM), responsive partner strategies, and a gaze-controlled device — may be beneficial for this patient population.
A clinical trial evaluating oral Anavex 2-73 in children and teenagers with Rett syndrome is recruiting up to 84 girls, ages 5 to 17, at a center in Vancouver, Canada, and three sites in Australia. According to a press release from the Ontario Rett Syndrome Association, the British Columbia Children’s…
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…
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…
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…
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