News

The MECP2 gene — mutations in which cause most cases of Rett syndrome — may be important for encoding early childhood traumas into the genetic wiring of the brain, affecting behaviors, a study in mice suggests. Titled “MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent…

To support scientific investigations that seek therapies and a cure for Rett syndrome, the International Rett Syndrome Foundation (IRSF) is investing $2.3 million in research grants. The IRSF worked with its scientific advisory board (SAB) to determine the studies to advance. To develop treatments for the rare…

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…

A rare case of premature puberty was reported in an 8-year-old girl diagnosed with Rett syndrome years earlier. “A case report of precocious puberty related to Rett syndrome and a literature review” was published in the International Journal of Pharmaceutical Sciences. Reports of precocious puberty —…

The Rett Syndrome Clinic at Children’s Hospital Los Angeles has been relaunched in an expanded space and expects to enhance individualized care for children with the disorder. The new Neurological Institute Outpatient Center opened this year at the hospital’s Sunset Boulevard campus. It aims to provide comprehensive care for children…

A mosaic mutation — one that is present in only some body cells — causing Rett syndrome was found in a 2-year-old boy in India, a report says. According to researchers, this is the first time this specific mutation has been reported in a male patient. The report, “…

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…

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…