News

Sex-specific changes in the gut microbiome and associated metabolites came before disease progression in a mouse model of Rett syndrome, a study demonstrated. Notably, the study showed that female Rett mice models mimicked the syndrome’s microbial and molecular signatures better than male Rett mice, which are primarily used in…

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…

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…

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, “…