News

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…

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…

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…

Using a comparative genomics approach, researchers have identified three potential therapies for Rett syndrome that are being used or tested for other indications. “This study highlights the potential of comparative genomics to accelerate drug discovery, and yields potential new avenues for the treatment of [Rett],” the researchers wrote. …

Brain organoids grown from stem cells derived from people with Rett syndrome reproduced patterns of electrical brain activity that resembled seizures, a hallmark of the condition, a study demonstrated. Use of anti-seizure medications restored electrical activity to normal levels, supporting the use of brain organoid models to investigate underlying…

Treatment with fluoxetine, a type of antidepressant sold under the brand name Prozac, increased the number of cells producing the protein MeCP2 — defective in most cases of Rett syndrome — in several brain regions of a mouse model of the disease, a study reported. These effects were…

The lack of a working MeCP2 protein — the most common cause of Rett syndrome — prematurely closes a window of neuronal plasticity in a brain region involved in social memory, a study showed. Neuronal plasticity is the brain’s ability to re-wire itself, to strengthen or weaken its neuronal connections, in response…