A new study highlights how MeCP2 protein dysfunction, particularly related to changes in alternative splicing — a process by which different proteins can be made from the same gene — implicated in brain function, may contribute to Rett syndrome. Specifically, the researchers found that in both Rett patients and…
The protocol of the Phase 1/2 trial (NCT05898620) that’s evaluating Neurogene’s NGN-401 in girls with Rett syndrome has been amended to use the low treatment dose of the gene therapy for all future participants, the company announced. The protocol alteration was submitted to the U.S.  Food and Drug…
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…
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 female mouse model of Rett syndrome manifested gene activity changes that began before the symptoms started and that mimicked those found in people with the condition. Biological pathways affected across the disease’s progression also overlapped with other neurodegenerative and addiction disorders. “Since RTT [Rett] in humans almost…
Increased levels of CB1 cannabinoid protein receptors, known as CB1Rs, may be tied to dysfunction of the brain’s mitochondria — its cellular energy-producing compartments — and to cognitive deficits in Rett syndrome, according to a study in a mouse model. The study also reported that blocking CB1Rs in the…
Women and girls with Rett syndrome experience disease progression and increasing disease burden even as they rely on supportive therapies, a study found. Close to half of all patients in the study needed a hospital or emergency room visit, the researchers said. Children and adolescents saw “increasing disease severity…
The International Rett Syndrome Foundation (IRSF) designated three new clinics as centers of excellence, saying they provide best-in-class clinical care for people with Rett syndrome. The designation comes with funding support from the foundation and integration into IRSF’s Center of Excellence Network, which now has 21 clinics…
CNM-AU8, an experimental gold nanocrystal therapy from Clene Nanomedicine, was seen to significantly improve mitochondrial function and nerve cell health in a cell model of Rett syndrome. Preclinical findings were detailed at the International Rett Syndrome Foundation 2024 Annual Meeting in Westminster, Colorado, in the…
Rett Syndrome Research Trust (RSRT) has launched an initiative to advance three genetic medicines for Rett syndrome to clinical trials by 2028. Called Roadmap to Cures, it seeks to raise $40 million over the next four years to help select and develop the therapies and is based…
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