Alterations in brain waves, measured using an electroencephalogram (EEG), revealed benefits of cognitive stimulation in Rett syndrome patients, a small study found. The benefits of cognitive stimulation were greater in younger girls, “highlighting that the younger the therapy is started, the better is the outcome,” the scientists wrote. The…
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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…
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