Marisa Wexler, MS, senior science writer —

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Early, intensive training in motor and memory skills before symptoms develop may delay disease progression and help children with Rett syndrome retain specific milestones, a study in mice suggests. Observed benefits were not evident when training was given to symptomatic animals, its researchers wrote, supporting “genetic screening of newborns…

A fine balance of proteins called cohesins is important for the normal inactivation of the X chromosome, new research suggests. Better understanding how the activity of the X chromosome activity is regulated could be important for treating conditions like Rett syndrome, which is caused by a mutation in a…

Researchers have identified a set of RNA molecules that are dysregulated in Rett syndrome and may be relevant biomarkers for the disorder. The study, “Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy,” was published in the journal…

Novartis Gene Therapies is planning to submit an investigational new drug application (IND) for OAV201, its Rett syndrome gene therapy candidate, by the end of the year, the company announced in a letter to the Rett community. If the IND is approved by the U.S. Food and Drug Administration…

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 central to NORD’s mission and history — community…

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…

A Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy Anavex 2-73 (blarcamesine) in Rett syndrome has been completed, according to the company. Top-line results from the trial are expected before the end of the year. “We would like to…

Stimulation of the vagus nerve, when paired with sound, could help people with Rett syndrome better process what they hear, a study in rats suggests. The study, “Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome,” was…

Children with Rett syndrome who can verbalize meaningful words are more likely to be able to walk past age 10, a study suggests. The study, “Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome,” was published in the journal Brain…