Author Archives: Marta Figueiredo PhD

‘Encouraging’ Results Seen in Patients in LAVENDER Phase 3 Trial

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…

Communication Interventions May Help Rett Patients Better Interact

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.

Virtual Avatar Improved Attention and Memory

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…

Nocturnal Teeth Grinding Linked to Frequent Snoring

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…

MeCP2-boosting Approaches Led to Toxic Events in Mice

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…

Changes in Gut Microbiota Associated With Disease Severity

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.