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Digestive problems, such as constipation and bloating, affect more than 80% of girls and women with Rett syndrome, a study reveals. The most frequent problems included constipation, difficulties with eating and swallowing, and gas and bloating. More than half of the patients showed irritability due to stomach or gut…
Acadia Pharmaceuticals has submitted a marketing authorization application for trofinetide to European Union regulators, seeking the therapy’s approval for adults and children, ages 2 and older, with Rett syndrome. The application to the European Medicines Agency (EMA) is Acadia’s first such submission in Europe, according to a…
About two in three girls with Rett syndrome develop scoliosis, a sideways curvature of the spine, while one in two exhibit foot deformities, according to a review study. About 30% of the patients experienced hip dislocations, the study found. In general, scoliosis was more prevalent in studies with a…
A new study sheds light on how MeCP2 protein dysfunction leads to brain abnormalities in Rett syndrome, and provides a framework to develop new treatments like gene therapies. Specifically, researchers conducted a study in adult mice and found the loss of the MeCP2 protein — not problems during development…
Defects in how cells degrade old or damaged components, a cellular recycling process called autophagy, contribute to the dysfunction of nerve cells in Rett syndrome, a lab study reports. Treating mice in a Rett disease model with trehalose, a naturally occurring molecule known to induce autophagy, restored the recycling…
A research team has identified Rett syndrome-specific molecules that regulate gene activity, called microRNAs, that are associated with the growth of patient-derived brain cells and may serve as biomarkers for monitoring Rett progression. Using 3D organoids that mimic the brain, the team identified these microRNA fingerprints within extracellular vesicles…
Marvel Biosciences‘ MB204, an experimental treatment for Rett syndrome, was shown to improve social behaviors — with “durable” effects — in a mouse model of the disease. Based on these results, Marvel intends to seek orphan and/or rare disease designation from the U.S. Food and Drug Administration (FDA)…
A girl with Rett syndrome participating in a clinical trial testing gene therapy NGN-401 experienced a serious, treatment-related immune reaction. The patient, who received a high dose of NGN-401 in an ongoing Phase 1/2 trial (NCT05898620), experienced signs of systemic (body-wide) hyperinflammatory syndrome, a rare and life-threatening immune…
The first four girls with Rett syndrome treated with a low dose of Neurogene‘s gene therapy candidate NGN-401 in a clinical trial have experienced new developmental milestones and seen meaningful gains in skills, according to new interim data. Clinicians and caregivers both have confirmed the improvements seen in…
Into-the-nose delivery of a solution containing clinical-grade human nerve growth factor (NGF) improved cognitive and motor function in a mouse model of Rett syndrome, including in male mice with more severe and rapidly advancing symptoms, a study has found. This could be “a non-invasive and effective route of administration…
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