Marta Figueiredo, PhD, science writer —

Females with classic Rett syndrome have an inactivation of the paternally-inherited X chromosome — which most often contains disease-causing mutations in the MECP2 gene — in their cells, a study shows. These findings suggest that while most cells in classic Rett patients may not have the mutated gene activated, the…

Anavex 2-73 (blarcamesine), Anavex Life Sciences’ investigational oral therapy, safely and effectively eased the characteristic behavioral features and severity of Rett syndrome in treated women, while improving their quality of life, according to top-line data from the Phase 3 AVATAR trial. The findings, indicating that the trial met its…

Trofinetide, Acadia Pharmaceuticals’ experimental therapy, significantly reduced neurobehavioral symptoms and improved communication in girls and young women with Rett syndrome, according to top-line data from the Phase 3 LAVENDER clinical trial. These results — meeting the trial’s main and key secondary goals — were consistent across age ranges…

A specific mutation of MECP2 — the main disease-causing gene of Rett syndrome — prevents a type of chemical modification on the resulting MeCP2 protein that is key for nerve cell growth, maturation, and function, a study in lab-grown cells and mice shows. In addition, these defects were associated with…

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.

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…

Using a virtual avatar to guide users during attention and memory tasks significantly improves the performance of people with Rett syndrome, according to a small study from Italy. The human-like interactive agent likely acts as a social motivator for these  patients, who often focus on the face of parents and…

Bruxism, also known as teeth grinding and jaw clenching, during the night is associated significantly with frequent snoring in girls and women with Rett syndrome, an international database study shows. The data also support the previously reported high prevalence of bruxism (reported in 66.2% of patients) in this…

Providing a working version of MECP2 — the gene mutated in most cases of Rett syndrome — to cells reversed disease-specific symptoms in a mouse model of a common, milder form of Rett syndrome, a study shows. However, female mice treated with this approach showed signs of excessive, toxic levels of MeCP2, the…

The richness and diversity of the gut’s microbial community, or microbiota, are reduced significantly after puberty and associated with greater disease severity in girls and young women with Rett syndrome, a study shows. These findings add to the growing body of evidence linking Rett syndrome and altered gut microbiota.