Marisa Wexler, MS, senior science writer —

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…

Lack of a functional MeCP2 protein leads to Rett syndrome by altering levels of brain proteins associated with energy metabolism and protein regulation, a study in a mouse model suggests. These altered protein levels might also predict Rett syndrome’s progression, the investigators said. The study, “Brain protein…

Preliminary clinical data from a Phase 2 trial testing Anavex-2-73 suggest the investigational therapy is effective and safe for the treatment of Rett syndrome. Detailed results will be presented at the 6th European Rett Syndrome Conference, to be held in Tampere, Finland, Sept. 27-28, according to a press…

Therapy that engages multiple senses in a playful context may help improve hand coordination in children with Rett syndrome, a preliminary study suggests, but more research is needed. The study, “Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders,” was published in the journal…

A new study reports an increasing trend in the number of prenatal genetic tests to detect spontaneous mutations that can cause conditions such as Rett syndrome. The study, “Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period,” was published in Molecular…