News

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…

Insulin-like growth factor-1 (IGF-1) and oxytocin may normalize the levels of the KCC2 protein — which is abnormal in the brain of Rett syndrome patients — in a region-specific and complementary manner, a study in mice suggests. This finding supports their potential use as a combo therapy for Rett,…

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 newly found mutation in the MECP2 gene that causes Rett syndrome was described in a recent report. The report highlights some of the considerations that need to be taken into account when testing for an unknown Rett-causing mutation. Here, a testing glitch showed an artificial result from…

Neurons activated at the same time — a state called neuronal synchrony — and with lesser complexity in the relationships between nerve cells of the brain and the body may contribute to the aimless and repetitive movements of Rett syndrome, a recent animal study suggests. The study, “Collapse of…

The Rett Syndrome Research Trust (RSRT) has received a $1 million donation to help develop a cure for Rett syndrome. The gift, provided by Alba Tull, philanthropist and co-founder of Tull Family Foundation (TFF), will support the RSRT’s CURE 360 initiative, a project that aims to be…

Stem cells engineered to produce a constant level of a downstream target of the MECP2 protein, called brain-derived neurotrophic factor (BDNF), increased the development of new neurons and prevented body weight loss in a mouse model of Rett syndrome. The study with that finding, “Brain-Derived Neurotrophic Factor Secreting…

Female rats genetically engineered to carry a deficient Mecp2 gene — whose mutations are the leading cause of Rett syndrome — show social, behavioral, and motor symptoms that are similar to those of humans with the neurodevelopmental disorder, a study reports. These symptoms were associated with low levels of the…

The copy number of mitochondrial DNA (mtDNA) is increased significantly in patients with Rett syndrome, possibly indicating mitochondrial dysfunction, a study reported. Researchers suggest that this increase in the copy number of mtDNA is an attempt to compensate for decreased energy availability. Mitochondria are the producers of energy within…

Impaired function of the MeCP2 protein — the most common cause of Rett syndrome — causes defects in a process called RNA splicing, affecting protein production from genes important for nerve cell communication. The study with that finding, “Rett syndrome linked to defects in forming the…