Dysfunction of an RNA molecule called NEAT1 contributes to nerve cell damage in Rett syndrome, a study suggested, implying that normalizing the activity of this molecule could be a viable treatment strategy for Rett. The study, “NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation…
A new study aims to raise awareness about Rett syndrome in boys and explore how the disorder affects them and their families. The project is being led by Talia Thompson, PhD, and Timothy Benke, MD, PhD, both professors at the University of Colorado. It’s funded by the International…
Treatment with esketamine — a molecule chemically related to the dissociative anesthetic ketamine — has the potential to ease the symptoms of Rett syndrome, according to researchers in China who…
Treatment with Daybue (trofinetide) in clinical trials helped girls and young women with Rett syndrome to communicate and use their hands better, according to interviews with caregivers of participants in two studies that tested the now-approved therapy. “Caregivers from both trials described a range of improvements, including increased…
Researchers identified a new mutation in the MeCP2 gene in a Chinese boy diagnosed with Rett syndrome, a condition that rarely affects males. The boy exhibited diverse symptoms, including limited movements, breathing and sleep problems, heart and lung defects, and abnormal brain wave activity. “Our discovery of…
Digestive problems, such as constipation and bloating, affect more than 80% of girls and women with Rett syndrome, a study reveals. The most frequent problems included constipation, difficulties with eating and swallowing, and gas and bloating. More than half of the patients showed irritability due to stomach or gut…
Acadia Pharmaceuticals has submitted a marketing authorization application for trofinetide to European Union regulators, seeking the therapy’s approval for adults and children, ages 2 and older, with Rett syndrome. The application to the European Medicines Agency (EMA) is Acadia’s first such submission in Europe, according to a…
About two in three girls with Rett syndrome develop scoliosis, a sideways curvature of the spine, while one in two exhibit foot deformities, according to a review study. About 30% of the patients experienced hip dislocations, the study found. In general, scoliosis was more prevalent in studies with a…
A new study sheds light on how MeCP2 protein dysfunction leads to brain abnormalities in Rett syndrome, and provides a framework to develop new treatments like gene therapies. Specifically, researchers conducted a study in adult mice and found the loss of the MeCP2 protein — not problems during development…
Defects in how cells degrade old or damaged components, a cellular recycling process called autophagy, contribute to the dysfunction of nerve cells in Rett syndrome, a lab study reports. Treating mice in a Rett disease model with trehalose, a naturally occurring molecule known to induce autophagy, restored the recycling…
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