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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…

Gene mutations that cause Rett syndrome affect the function of mitochondria, the cell’s energy producers, in human astrocytes, a type of cell that supports nerve cell function, according to a new study. In fact, when healthy nerve cells took up mitochondria isolated from Rett astrocytes, their function was disrupted.

Digestive issues and growth deficits are common and persistent symptoms among classical Rett syndrome patients, according to a long-term study. No correlation was found between the type of mutation in the MECP2 gene, the chief cause of the disease, and the severity of digestive symptoms, which “emphasizes the need…

The behavior of MeCP2, the protein missing or defective in most people with Rett syndrome, is far more dynamic than was known, according to a study by U.S. researchers that provides new insights into the mechanisms underlying the rare condition. MeCP2 was previously believed to exert its regulatory functions…

Researchers used tiny, magnetic spheres to deliver a gene editing toolbox into stem cells prepared from a patient’s skin sample and correct a genetic mutation known to cause Rett syndrome. When the edited stem cells were given cues to turn into neurons (nerve cells) in the lab, they looked…

NGN-401, Neurogene‘s experimental gene therapy for Rett syndrome, was designated a regenerative medicine advanced therapy (RMAT) by the U.S. Food and Drug Administration (FDA). Based on preliminary data from an ongoing Phase 1/2 trial (NCT05898620), which is testing the gene therapy in girls with Rett, the…

Daybue (trofinetide) last year became the first treatment for Rett syndrome to win approval from the U.S. Food and Drug Administration (FDA), and it’s currently up for approval in Canada. Now, the company that sells it is working to get the therapy approved in other markets.

Treatment with ADH-503, an experimental oral treatment for pancreatic cancer, was found to slow disease progression and prolong survival in a mouse model of Rett syndrome, according to a study that focused on how brain immune cells may play a role in Rett. “I hope this work will ‘move…

Long-term treatment with Daybue (trofinetide) led to continual improvements among children and young adults with Rett syndrome in extension studies, with patients experiencing notable benefits in communication and other relevant issues, according to new data. Slightly more than a year ago, Daybue became the first treatment for Rett…

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…