The U.S. Food and Drug Administration (FDA) has provided positive feedback about the Rett Syndrome Global Registry — a database of clinical and caregiver-provided information on Rett syndrome patients — whose ultimate goal is to help develop novel therapeutics and a potential cure. The Rett Syndrome Research Trust…
News
A cellular signaling pathway called the JNK pathway is overactive in cell and animal models of Rett syndrome, and blocking it lessens signs of the disease in these models, according to a new study. “These results suggest that JNK inhibition could offer an attractive therapeutic strategy to tackle RTT…
Acadia Pharmaceuticals and Stoke Therapeutics are teaming up to develop and commercialize new RNA-based therapies — using Stoke’s proprietary research platform, TANGO — for the potential treatment of Rett syndrome. As part of the collaboration, Stoke will receive a $60 million upfront payment from Acadia. “Stoke’s…
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…
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…
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