News

During Rett Syndrome Awareness Month this October, the International Rett Syndrome Foundation (IRSF) invites the community to get involved and help raise awareness and funds for disease research and patient support. The foundation looks to expand on its $58-million investment in Rett research and support to date.

A surgical procedure called a corpus callosotomy, which severs the main connection between the two sides of the human brain, was found to reduce the seizure burden of a young girl with Rett syndrome and hard-to-treat seizures, according to a case report. Calling this a “unique case,” 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…

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…